10

Ear
John C. Carey

T he auditory system is a highly interesting and complex structure.

A single integrated anatomic unit serves both hearing and
equilibrium. The ear develops as three distinct components: the
maintain differentiation of the placode to the otic vesicle and
otocyst. Pax-2, expressed ventromedially, is crucial to the cochlear
component of the inner ear, while Nkx-5, expressed dorsolaterally,
external ear, the middle ear, and the inner ear. In these introductory maintains the semicircular canals. Studies of mice who have
comments, the morphogenesis of the three parts of the ear will be knockouts of these two genes show cochlear aplasia and semi-
summarized in the context of the developmental genes currently circular canal agenesis, respectively.3,4
known to be vital in ear development. In addition, some of the Other genes expressed in the mouse cochlea in early devel-
recently discovered genes, known to be expressed in the inner ear and opment are known to be crucial to morphogenesis based on similar
causative in many syndromic and nonsyndromic forms of deafness in types of gene inactivation experiments. These include Six1, Eya1,
the human, will be tabulated and concisely discussed. This latter set of Bmp4, Tpx1, and Wnt8c.5,6 The integration of these various mo-
genetic factors and molecules has amazing homology to the genes lecular factors and the morphogenesis of the cochlea and semi-
causing deafness in the mouse. Moreover, these genes have been circular canals are still being widely investigated. The fact that the
identified as a genetic basis of deafness only since 1996. fully developed inner ear comprises seven distinct cell types underscores
the molecular complexity of its morphogenesis.
Morphogenesis of the Ear and Crucial Genes The middle ear harbors a chain of three ossicles that transmit the
The orchestration of the key events involved in the embryogenesis vibrations of sound from the environment into the inner ear, where
of the three parts of the ear is remarkable: the embryonic inner ear, they are then converted to neural impulses. Gene inactivation studies,
eventually going on to form the cochlea and semicircular canals, such as those done in inner ear development, have identified mole-
derives from surface ectoderm and migrates inward. It must con- cular factors needed for the formation of the different components of
nect with the two other distinctive components, the middle ear the middle ear. The signaling molecules, Fgf-8 and endothelin1, likely
cavity and the auricle with its meatus, both separate structures and mediate epithelial-mesenchymal interactions.7 Other genes, including
derived from the first and second branchial arch.1,2 Eya1, Hoxa1, Hoxa2, and Dlx1, are involved in patterning the process
The main landmarks that occur in the development of the of neural crest cells migrating into the region to form the middle ear
inner, middle, and outer ear are summarized in Table 10-1. The structures.7 Of note, the tympanic ring (TR), which surrounds the
earliest morphologic evidence of the development of the inner ear future tympanic membrane, plays a crucial role in directing in-
occurs at about 22 days as a thickening in the surface ectoderm of vagination of the first pharyngeal cleft ectoderm to form the external
both sides of rhombomeres four through six. This is occurring auditory meatus. Thus, the integration of the connections between the
just at the time the neural tube is closing. This thickening, called middle ear and the external ear are orchestrated by the TR. The TR
the otic placode, invaginates and forms the otic vesicle. This pla- needs goosecoid and Prx1 to carry out its pivotal role. Absence of these
code is a distinct structure and similar to the placodes that form genes results in an embryo without a TR and, subsequently, the ex-
the other sensory organs, the eye and the nose. The signals re- ternal auditory meatus. This particular malformation, aural atresia,
quired to induce the otic placode, the first step in ear develop- will be discussed in the section on the external ear. Eya1 and Msx1
ment, come from the mesoderm and neural cells. The molecules both are also needed in the middle ear, because gene activation studies
mediating these events in the mouse and human are still being of these factors result in significant ossicular chain defects. These two
delineated and are under close investigation. In the chick, FGF-19 genes are both involved in the causation of human craniofacial syn-
is likely the crucial molecule that induces the otic placode. dromes; Eya1 is the causative gene for the brachio-oto-renal syndrome
However, what is clear is that in the mouse, Fgfs certainly play a and Msx1 mutations cause dental anomalies.
crucial role in otic placode induction, with Fgf-3 from the hind- The external ear—the auricle and its connection with the
brain and Fgf-10 from the neural tube adjoining the placode.3,4 The external auditory meatus—develops at approximately 42 days from
line of evidence that leads to this conclusion comes from knock- six proliferations of mesenchyme that occur on both sides of the
out experiments in the mouse. Other genes are then required to first pharyngeal cleft. These hillocks arise from the first and second

327
328 Craniofacial Structures

Table 10-1. Key landmarks in the development of the ear

Time from
Conception Landmarks

21 days Otic placode invaginates and migrates inward to form the otic vesicle.
The vesicle differentiates into three components: the dorsal endolymphatic
duct, the expanded central utricle, and the ventral saccule.
28–50 days The central utricle differentiates to form the three semicircular canals and the
ventral saccule increases in size and coils to form the cochlea. These derivatives constitute
the membranous labyrinth. The VIII nerve also forms from the otic placode tissue.
9–23 weeks Condensation of mesenchyme around the membranous labyrinth chondrifies and then
ossifies to form the bony labyrinth.
5–8 weeks The first pharyngeal pouch lengthens and forms the tubotympanic recess, which
eventually develops into the tympanic cavity of the middle ear and the eustachian tube.
The cartilages of the surrounding first and second pharyngeal arch give rise to the malleus,
incus, and stapes. The mandibular process of the first branchial arch is the origin of
the malleus, while the cartilage from the maxillary portion of the first branchial arch gives rise
to the incus. The stapes derives from cartilage of the second branchial arch. The tympanic
ring induces the ectoderm of the first pharyngeal cleft to form the external meatus.
6–8 weeks The auricle develops from six hillocks, which appear on the adjoining edges of the first and
second branchial arch. The cleft in between connects with the external auditory canal from the
tympanic ring. The tympanic membrane arises from the tissue that separates the first pharyngeal
pouch and the first pharyngeal cleft.

Adapted from Larsen1 and Sadler.2

branchial arch. They proceed to form the auricle and connect with their disordered functional outcome, deafness.8,9 Tables 10-2 and
the external auditory meatus, as described above. From knockout 10-3 summarize a selected group of human deafness conditions,
experiments, Hoxa1, Hoxa2, and retinoic acid receptors all play a role nonsyndromic and syndromic, and tabulates the mouse homo-
in external ear morphogenesis.1 As indicated, the processes must be logous disorder. The selected group includes many of the condi-
integrated in time and place. The final anatomic unit includes tions that will be discussed in the sections on the inner ear (10.31
the auricle and its meatus connected to the tympanic membrane (the and 10.32). Currently, over 80 loci for human deafness have been
tympanic ring embeds itself into the temporal bone of the osseous mapped and over 30 genes for nonsyndromic deafness have been
labyrinth), which connects to the three ossicles. This leads to the oval identified, most since 1996. Study of the mouse allows detailed
window, which opens into the vestibulocochlear apparatus. knowledge of the expression of these genes, the interaction of their
proteins, and potential clues into pathogenesis. The proteins
Mouse Models for Human Deafness comprise transcription factors, signaling molecules, signal trans-
The sections on the inner ear will discuss the malformations of duction proteins, and extracellular matrix proteins. One group of
the vestibular and cochlear organs. Currently, there is an impres- proteins that is known to be associated with human deafness is the
sive collection of mouse mutants with disorders of hearing and myosins; three of the myosins have been discovered as causative of
equilibrium that provide models for the study of these genes and human conditions, owing to their corresponding mouse mutants.

Table 10-2. Human nonsyndromic deafness genes and selected corresponding mouse genes and mutations
Human Disorder Human Gene/Locus Mouse Gene/Locus Mouse Mutation

DFNB12 (also USH1D) CDH23, 10q21-q22 Cdh23, 10 Waltzer

DFNA13 (also STL2) COL11A2, 6p21 Col11a2, 17 Targeted null
DFNA1 DIAPH1, 5q31 Diap1, 18 None
DFNA10 EYA4, 6q23 Eya4, 10 None
DFNA3, DFNB1 GJB2 (CX26), 13q11-q12 Gjb2, 14 Targeted,
conditional null
DFNA3, DFNB1 GJB6 (CX30), 13q12 Gjb6, 14 Targeted null
DFNA48 MYO1A, 12q13-q14 Myo1a, 10 None
DFNB3 MYO15, 17p11 Myo15, 11 Shaker 2, sh2
DFNA22, DFNB37 MYO6, 6q13 Myo6, 9 Snell’s waltzer, sv
DFNB2, DFNA11 (also USH1B) MYO7A, 11q13 Myo7a, 7 Shaker 1, sh1
DFN3 POU3F4, Xq21.1 Pou3f4 (Brn4), X Targeted null; sex-
linked fidget, slf
DFNA8/DFNA12/DFNB21 TECTA, 11q22-q24 Tecta, 9 Targeted null

From Jackson Laboratory.11

 Ear 329

Table 10-3. Human syndromic deafness genes and corresponding mouse genes and mutations
Human Disorder Human Gene/Locus Mouse Gene/Locus Mouse Mutation

USH1D, Usher, type ID (also DFNB12) CDH23, 10q21-q22 Cdh23, 10 Waltzer, v

USH1B, Usher, type IB (also DFNB2, MYO7A, 11q13 Myo7a, 7 Shaker 1, sh1
DFNA11)
STL3, Stickler, type III COL11A1, 1p21 Col11a1, 3 Chondro-dysplasia, cho
Alport COL4A3, 2q36-q37 Col4a3, 1 Targeted null
WS4, Waardenburg-Shah EDN3, 20q13 Edn3, 2 Lethal spotting, ls
BOR, branchio-oto-renal EYA1, 8q13 Eya1, 1 Spontaneous—Eya1bor
and targeted null
JLNS2, Jervell and Lange-Nielsen, locus 2 KCNE1 (ISK), 21q22 Kcne1 , 16 Targeted null
JLNS1, Jervell and Lange-Nielsen, locus 1 KCNQ1 (KVLQT1), 11p15 Kcnq1, 7 Targeted null
Renal-coloboma PAX 2, 10q24-q25 Pax2 , 19 Targeted null
WS1, Waardenburg type I PAX3, 2q37 Pax3, 1 Splotch, Sp
WS3, Klein-Waardenburg
WS2A, Waardenburg, type IIA MITF, 3p14-p12 Mitf, 6 Microphthalmia, mi
PDS, Pendred (also DFNB4) SLC26A4, 7q31 Slc26a4 12 Targeted null
DGS, DiGeorge anomaly TBX1, 22q11 Tbx1, 16 Transgene overexpression
targeted null

From Jackson Laboratory.11

Myosins are molecules that move along actin filaments. They are 3. Pauley S, Wright TJ, Pirvola U, et al.: Expression and function of
known to be involved in various cell functions, such as movement FGF-10 in mammalian inner ear development. Dev Dyn 227:203,
and signal transduction. Understanding their role could provide 2003.
insight into human deafness and, perhaps, creative strategies for 4. Wright TJ, Mansour SJ: FGF-3 and FGF-10 are required for mouse otic
prevention or even treatment. As summarized by Steel and Kros in placode induction. Development 130:3339, 2003.
5. Zheng W, Huang L, Wei ZB, et al.: The role of SIX1 in mammalian
their seminal paper in 2001,10 the expression patterns in the ster-
auditory system development. Development 130:3989, 2003.
eocilia of the hair cells and in the organ of Corti of the cochlea has 6. Vitelli F, Viola A, Morshima M, et al.: TBX1 is required for inner ear
allowed for the depiction of the array of genes involved in the au- morphogenesis. Hum Mol Genet 12:2041, 2003.
ditory mechanism. The web page for the hereditary hearing im- 7. Mallo M: Formation of the middle ear: recent progress in development
pairment in mice from the Jackson Laboratory11 and the hereditary and molecular mechanisms. Dev Biol 231:410, 2001.
hearing loss home page at the University of Iowa12 are both valuable 8. Ahituv N, Avraham KB: Mouse models for human deafness: current
resources and provide current listings of the identified genes and tools for new fashions. Trends Mol Med 8:447, 2002.
loci involved in mouse mutants and human deafness, respectively. 9. Avraham KB: Mouse models for deafness: lessons for the human inner
ear and hearing loss. Ear Hear 24:332, 2003.
10. Steel KP, Kros CJ: A genetic approach to understanding auditory
References function. Nat Genet 27:143, 2001.
1. Larsen WJ: Development of the ears. In: Human Embryology, ed 3. 11. Jacskson Laboratory. Hereditary hearing impairment in mice. http://
Churchill Livingstone, New York, 2001. www.jax.org/hmr/models.html.
2. Sadler TW: Langman’s Medical Embryology, ed 9. Lippincott Williams 12. University of Iowa. Hereditary hearing loss home page. http://www.
& Wilkins, Philadelphia, 2004. uia.ac.be/dnalab.hhh

External Ear
John C. Carey, Albert H. Park, and Harlan R. Muntz

Structural defects of the external, middle, and inner ear comprise a branchial arch development and the vast number of genes expressed
significant class of congenital anomalies because of their overall in cochlear development; the psychological and emotional aspects of
frequency and their impact on the people who have them. Most of coping with congenital disorders, especially the stigma of external
the recurrent themes that surface in the study of malformations in ear defects and deafness, emerge as themes in the care of individuals
general will emerge in a discussion of ear malformations: all types of with ear abnormalities.
congenital defects from malformations/dysplasias to deformations The external ear is an important site for the study of phe-
and disruptions are represented in the study of the ear; state-of-the notypic variations, mild malformations, and so-called minor
art developmental biology is typified by the role of neural crest in anomalies. It was once thought to be an identifier in criminology.1
330 Craniofacial Structures

Fig. 10-1. A. Schematic showing anatomic landmarks of the external ear. B–E. Frontal and lateral views
of a male and a female showing level of external ears in relation to the outer canthi of the eyes.

The medically insignificant but helpful morphologic clues that lie 10-1 shows the normal anatomy of the external ear and the po-
in the ear are many. It is of note that all of the common chro- sition of the ear in relation to other facial structures.
mosomal syndromes and most of the uncommon ones have a
variation or malformation of the ear as a consistent feature. The
References
external ear alterations of Down syndrome and trisomy 18 are
examples of this. The evolutionary biology of the external, middle, 1. Rogers B: Microtic, lop, cup and protruding ears. Plast Reconstr Surg
and inner ear serves as a prototype for the application of this body 41:208, 1968.
2. Gould SJ: An earful of jaw. Nat Hist 99(3):12, 1990.
of knowledge to the study of human malformations. The reader is
3. Van De Water TR, Maderson PFA, Jaskoll TF: The morphogenesis of the
referred to the papers by Gould2 and Van De Water et al.3 on this middle and external ear. Birth Defects Orig Artic Ser XVI(4):147, 1980.
theme and to classical works on the anthropology of the external 4. Martin E, Saller K: Lehrbuch der Anthropologie, vol III. G Fischer
ear.4,5 Sections 10.1 through 10.21 provide a comprehensive list- Verlag, Stuttgart, 1962, p 2051.
ing and review of external ear malformations in humans. Sections 5. Schwarzfischer F: Ohrmuschel. In: Humangenetic, vol 1/2. PE Becker,
10.22 through 10.33 deal with the middle and inner ear. Figure ed. Georg Thieme Verlag, Stuttgart, 1969, p 163.
 Ear 331

S or a question mark appearance. Type III microtia represents the

10.1 prototype of this spectrum and is the most common abnormality in
Microtia/Anotia the surgical series, comprising 50–60% of cases (Fig. 10-2C). The
ear is usually a rudiment of soft tissue, and the auricle no longer has
Definition any resemblance to the normal pinna. It is often called ‘‘peanut’’
Microtia/anotia is a malformation or hypoplasia of the auricle, shaped. Types II and III microtia are almost always associated with
ranging from a measurably small external ear with minimal external auditory canal atresia, and about 75% of cases will have
structural abnormality, to the ear with major structural alteration, some degree of mandibular hypoplasia.3 About 10% of individuals
to total absence of the ear (anotia). These anomalies are divided with types II and III microtia will have ipsilateral facial nerve
into four types, microtias I to IV. (Lop/cup ear and less significant weakness, and about 15% will be labeled as having hemifacial
changes of superior or inferior aspects of the auricle are discussed microsomia.4 Type IV microtia consists of anotia, and there is no
in Section 10.11.) pinna tissue present at all. In the surgical series of 311 cases re-
ported by Jafek et al.,5 approximately 18% of patients were classi-
Diagnosis fied with type I microtia; 20% type II; and 50% type III. Only 3%
The spectrum of microtia represents the most severe malforma- had anotia (type IV), and the remainder of the series had meatal
tions of the external ear. The diagnosis is made from physical ex- atresia without external ear defects (see Section 10.3). In larger
amination, and most clinicians utilize the classification systems of population series, anotia represents about 10–20% of cases. Mi-
Meurman1 or Aguillar2 modified from Marks (Fig. 10-2). Type I crotia types I to III will occasionally be accompanied by a pre-
microtia consists of a generally small pinna that retains most of the auricular tag that probably represents the mildest form of the
overall structure of the normal auricle. Type I blends closely to the continuum of this defect.
lop/cup defect, and clear distinction between it and the lop/cup The degree of hearing loss in persons with microtia depends on
defect is not made in the otologic literature. In this milder form, the the presence of meatal atresia, middle ear ossicular chain defects, and
auditory meatus is usually patent, and defects of the ossicular chain the occasional occurrence of inner ear dysplasias. In nonsyndromic
are infrequent. Type II microtia is a moderately severe anomaly microtia there is a definite correlation between the degree of external
with a longitudinal mass of cartilage that has some resemblance to ear defect and the presence of middle ear malformations. High-
the pinna; the rudimentary auricle will be hook-shaped or have an resolution computed tomography (CT) scanning of the middle and

Fig. 10-2. Microtia I: small ear with usual anatomic components, III: irregular tissue mass without resemblance to external ear, here with
here with excessive downward folding of superior helix in an infant with atresia of the external canal in a child with Goldenhar syndrome (C).
Down syndrome (A). Microtia II: vertical mass of cartilage with only Microtia IV: absence of external ear in a child exposed prenatally to
superficial resemblance to ear, here with atresia of the external canal and thalidomide (D).
preauricular tag in an infant with Goldenhar syndrome (B). Microtia
332 Craniofacial Structures

inner ear greatly assists in the diagnosis of these associated defects as have usually ranged from one in 3000 to 20,000, with the average
well as in the planning of surgery. In infancy and the preschool years, estimate at about one to two in 10,000 in the most comprehensive
the degree and type of hearing loss can be detected with brainstem- birth defect registries. An investigation in South America reported
evoked response, behavioral testing, and impedance audiometry. figures of one in 500 to 3000, depending on the location.17 The
Axial and coronal CT scanning are usually deferred until just prior to frequency in Quito, Ecuador, of one in 500 is the highest re-
the planned surgical intervention. The range of associated middle ear corded figure. Aase and Tegtmeier18 found a one in 2000 birth
ossicular defects is wide and seems not to follow any pattern. Fusion prevalence among Native Americans. As mentioned earlier, 20–40%
of the malleus to the atresia plate or to the walls of the epitympanic of individuals will have microtia associated with other defects. In two
recess is common in individuals with meatal atresia (Section 10.3). recently published large population series, 28–49% of reported cases
About 20–40% of children with microtia/anotia will have an had microtia associated with other defects, with 6–9% having a well-
associated defect or an identifiable syndrome pattern.3,6,7 Gorlin defined syndrome.19,20
et a1.7 and Tewfik and der Kaloustian8 have cataloged the many Epidemiologic studies have consistently shown a male to
syndromes that can have microtia as a feature (see also Table 10-4). female predominance of about 2:1. In unilateral microtia, the lo-
The most important condition associated with microtia is the oculo- cation is right-sided about 60% of the time. In the larger series,
auriculo-vertebral (OAV) spectrum. Investigators at the Center for about 10% of individuals were affected bilaterally, and about 80%
Craniofacial Anomalies at the University of Illinois have meticulously had meatal atresia.
documented the relationship between isolated microtia, ear tags, The etiology of microtia is heterogeneous. Table 10-4 shows
hemifacial microsomia, Goldenhar syndrome, and the OAV spec- the large number of syndromes, many of which are of single-gene
trum.9 The range of findings within familial cases of the Goldenhar etiology, that consistently include microtia as a component. Mi-
syndrome and of isolated (apparently nonsyndromic) microtia sug- crotia types I through IV can also occur as features of chromosome
gests a continuum; however, it is not clear that all individuals who disorders, especially type I microtia in trisomy 21 and types II
have isolated microtia always have it as one end of the OAV spectrum. through IV microtia in trisomy 18 and 13 syndromes. The reader is
Recently, Llano-Riva et al.10 studied 145 children with microtia, many referred to Tewfik and der Kaloustian8 for an extensive listing of
having features of OAV.12 Because of no difference in the groups of syndromes with external ear defects. Microtia/anotia is a consistent
patients, they concluded that microtia is the mild end of expression of finding in the isotretinoin embryopathy. The discovery that the
the OAV spectrum. Certainly not all of the syndromes in which mi- vitamin A congeners are human teratogens and that they can
crotia occurs will exhibit the entire OAV spectrum. Kaye et al.,11 produce alterations of morphogenesis of the external ear has par-
Gorlin et al.,7 and Cohen et al.12 have presented reviews of the OAV alleled a body of work surrounding the role of neural crest in ear
spectrum. It is clear from all of this work that this malformation development. Microtia and external ear malformations have been
pattern is a condition of etiologic and pathogenetic heterogeneity. Any produced in various animal models with trypan blue, thalidomide,
individual who has apparently isolated microtia (with or without and the vitamin A congeners. Poswillo21 proposed that the pa-
hemifacial microsomia) is a candidate for this diagnosis. thogenesis of microtia with associated hemifacial microsomia was
In addition to the list of well-delineated syndromes, microtia due to embryonic hematoma formation in the area of the blood
appears to have other, nonrandom associations. Kaye et al.3 docu- vessels that precede the formation of the stapedial artery stem. It is
mented a positive association between microtia and cervical spine difficult to explain the entire continuum of the OAV spectrum
fusion not necessarily as part of the OAV spectrum. Their data (lower spinal defects, epibulbar dermoids) as secondary to a vas-
suggest that individuals with isolated microtia should be in- cular disruption. An alteration in cephalic neural crest migration is
vestigated for the presence of cervical spine abnormalities. One of certainly the most attractive hypothesis to explain the pathogenesis
the most widely discussed associations in pediatrics is the apparent of microtia/anotia currently.
relationship between external ear defects and renal malformations. Most cases of microtia/anotia are isolated, with no family his-
Other than the occurrence of auricular abnormalities (including tory, and most large surgical series indicate that less than 10% of the
microtia) in the many syndromes characterized by both ear and time there is a family history; however, numerous authors have
kidney defects, there is no conclusive epidemiologic evidence that mentioned the occasional occurrence of a positive family history in
an external ear defect is a marker for renal malformation and nonsyndromic microtia. Rollnick and Kaye have documented higher
warrants invasive urologic investigation. This issue is discussed frequencies of first- and second-degree relatives with ear abnor-
again in detail in connection with low-set ears (see Section 10.9). malities in individuals with microtia with or without hemifacial
The most important association with microtia is conductive microsomia.9 In their studies, 8% of first-degree relatives had some
and sensorineural hearing loss. As pointed out by Jaffe,13 the degree of ear abnormality, including preauricular tags. While most
entire range of microtia as well as other milder ear defects should of their patients were classified as having hemifacial microsomia as
always bring to mind middle and internal ear abnormalities. opposed to isolated microtia, eight of 15 of their cases diagnosed as
Bassila and Goldberg14 found a 16% occurrence of sensorineural microtia had a positive family history. Their data suggest that mi-
hearing loss in individuals with microtia and/or hemifacial mi- crotia is part of a continuum that extends to hemifacial microsomia
crosomia. Naunton and Valvassori15 detected a frequency of 8% of and Goldenhar syndrome as mentioned above. These investigators
cases, whereas in the Jafek et al.5 cases, none had neural hearing thought that the multifactorial model of causation fits the data best.
loss. More recently, Calzolari et al.16 found inner ear dysplasia in Looking closer at immediate families in their data set, one can note
10% of cases.16 Certainly inner ear abnormalities and sensorineural two kindreds of multiple affected sibs with no other affected relatives,
hearing loss should be excluded when following individuals with a pattern that might suggest autosomal recessive inheritance. How-
microtia. ever, there were 19 other pedigrees that showed generation to gen-
eration transmission suggestive of dominant inheritance.
Etiology and Distribution It is of note that microtia with meatal atresia is listed as an
A number of epidemiologic investigations worldwide have estimated autosomal recessive disorder in the Online Mendelian Inheritance
the birth prevalence of microtia/anotia (Table 10-5). The figures of Man,22 yet a review of familial reports of nonsyndromic microtia
Table 10-4. Syndromes with microtia, types I–IV
Causation
Syndrome Prominent Features Gene/Locus

Acrofacial dysostosis-cleft Mandibular hypoplasia, malar hypoplasia, cleft lip, Unknown

lip-triphalangeal thumbs bifid uvula, hypoplastic thumbs with three phalanges.
Bixler Hypertelorism, oral facial clefting AR (239800)
Branchio-oto-renal Branchial clefts, ear pits, hearing loss, renal defect AD EYA1, 8q
CHARGE Coloboma, Heart defects, Atresia choanae, retarded growth and Sporadic (214800)
development, genital anomalies, ear anomalies or deafness CHD7, 8q12
Coxo auricular Dislocated hips, abnormal femora AD (122780)
Diabetic embryopathy Excessive intrauterine growth; increased risks for CNS, cardiac, Maternal diabetes
spine, and limb defects
Fraser Cryptophthalmia, syndactyly, Müllerian defects AR (219000)
FRAS1, 4q21
Greig Macrocephaly, hypertelorism, syndactyly, polydactyly AD (175700)
GLI3, 7p13
Hennekam Intestinal lymphangiectasia, facial anomalies, developmental delay AR (235510)
Johnson-McMillen Alopecia, anosmia, hypogonadism AD (147770)
Kabuki Characteristic face, prominent ears, short stature AD (147920)
Maxillofacial dysostosis Maxillary hypoplasia, downslanting palpebral fissures, delayed AD (155000)
and inarticulate speech
Meier–Gorlin Absent patella, short stature, distinctive face AR (224690)
Mengel Unusual ear defects, conductive hearing loss, mental AR (221300) 16p12
retardation, hypogonadism
Microtia-congenital heart Microtia, aortic arch anomalies, facial paresis Uncertain (243440)
defect-facial weakness
Moeschler Oral cleft, preauricular tags, hemifacial AD (141400)
microsomia, thumb/radial defects
Nager Mandibular hypoplasia, malar hypoplasia, radial/thumb hypoplasia AD (154400)
Oculo-auriculo-frontonasal Frontonasal malformation, hemifacial microsomia Unknown
Oculo-auriculo-vertebral spectrum Epibulbar dermoids, vertebral defects, variable heart defects Heterogeneous
AD (164210)
AR (257700)
14q
Postaxial acrofacial dysostosis (Miller) Mandibular hypoplasia, postaxial limb deficiency Unknown (263750)
Townes–Brock Ear defects, anorectal malformations, thumb defects AD (107480)
SALL1, 16p12
Treacher Collins Mandibular hypoplasia, malar hypoplasia, AD (154500)
downslanting palpebral fissures, TCOF1, 5q32
lower lid coloboma, cleft palate
Wildervanck Klippel-Feil anomaly, hearing loss, Duane anomaly XLD (314600)
Trisomy 21 Flat facies, upslanting palpebral fissures, Brushfield Chromosomal
spots, small mouth, short
stature, mental retardation
Trisomy 18 Prenatal growth deficiency, distinctive face/hands, short sternum, Chromosomal
heart defect, mental retardation
Del 4p Prenatal growth deficiency, hypertelorism, orofacial Chromosomal
clefts, mental retardation
Del 5p Round face, telecanthus, ear tags, distinctive weak Chromosomal
cry, mental retardation
Del 9p Characteristic face, hypotonia Chromosomal
Del 18p Distinctive face, ptosis Chromosomal
Del 22q11 Velopharyngeal insufficiency, heart defect, Di-George anomaly Chromosomal
Prenatal alcohol Prenatal and postnatal growth deficiency, distinctive Prenatal alcohol exposure
face, developmental delay
Prenatal thalidomide Preaxial limb defects, internal malformations Prenatal thalidomide exposure
Prenatal isotretinoin Anotia, CNS defects, conotruncal malformations Prenatal isotretinion exposure

333
334 Craniofacial Structures

Table 10-5. Selected studies of the birth prevalence of social settings. Ear canal reconstruction or bone conduction am-
microtia/anotia in various parts of the world plification for improved hearing should be discussed in detail with
Study Group, Location Year Per 10,000 Population the family early so that the implications of improved hearing can be
18
weighed against the risks of the surgical intervention.
Aase, American Indian 1976 5.38
Children with microtia, either isolated or as part of the OAV
Aase, all New Mexico18 1976 1.34 anomaly, are frequently evaluated and cared for by craniofacial
Castilla and Orioli, Quito, Equador17 1986 17.40 specialists on a team. The surgical management of microtia is com-
Castilla and Orioli, South America17 1986 3.20 plicated, and numerous surgeons have developed creative approaches
Mastroiacova et al., Italy 19
1995 1.45 to reconstruction. While some otolaryngologists argue for meatal
atresia being repaired prior to ear reconstruction, more recently most
Harris et al., Sweden20 1996 2.35
surgeons have approached external ear surgery first. Certainly the
Harris et al., France20 1996 0.76 surgical repair should be accomplished by plastic surgeons and
Harris et al., California, USA20 1996 2.0 otolaryngologists who are used to working together and are experi-
Sanchez et al., Venezuela37 1997 3.80 enced in reconstruction.
There are two approaches: prosthetic management and auri-
cle reconstruction. Though it is important to offer the family a
choice of no intervention, most families will want the child to have
(even excluding the data from Chicago) produced a minimum of 11 a more normal facial appearance. Surgical reconstruction of the
reports of generation-to-generation transmission of microtia, some external ear is a multistaged endeavor and, as with any surgery, there
with three-generation pedigrees and one with a five-generation are risks involved. Prosthetic management requires the diligence of
pedigree.23–26 There are also a number of other cases that are labeled a maxillofacial prosthedontist but has not received as much ac-
as familial hemifacial microsomia that cannot be distinguished ceptance in the United States.
from isolated microtia. One of the classic pedigrees cited to support A prosthetic ear can be made to look very lifelike. Because there
the idea of recessive inheritance of microtia with meatal atresia is are few limitations to thickness, coloration, and revision, the child
that studied by Ellwood et al.27 Yet, in this kindred there was with prosthesis may actually have a more normal appearance than
consanguinity, the actual defect was called anotia, and two of the the child with a reconstructed auricle. Families are often concerned
children died in the first few months of life, which suggests a more about removing the ear prosthesis for physical activities and clean-
complicated syndrome, perhaps of recessive inheritance. These data ing. The prosthesis usually is attached with adhesives or tape, which
taken together suggest that nonsyndromic microtia with meatal may be a limitation for the active child.
atresia is probably not inherited as a simple autosomal recessive The use of titanium implants to anchor the prosthesis has re-
disorder, but rather occurs in many families as an autosomal volutionized the field of maxillofacial prosthetics. These implants
dominant trait with variable expression and incomplete pen- have been used for both dental and facial reconstruction. The tita-
etrance. In the dominant familial cases, unilateral and bilateral nium implants osseointegrate into the bone and are relatively non-
microtia with or without hemifacial microsomia occur in the same reactive. They have a post that comes through the skin or mucosa
family. Occasionally, some family members simply have the pre- upon which the prosthesis can be attached. The use of bone-anchored
sence of tags. The most parsimonious explanation for the genetics prostheses eliminates many of the concerns noted in other methods
of nonsyndromic microtia is to invoke complex multifactorial cau- of retention.29,30 Similar to auricular reconstruction, this is also a
sation in most cases, with well-established autosomal dominant multistaged operation but is not as invasive.31
inheritance representing a small proportion. The classical surgical reconstruction consists of four stages for
Regarding the molecular genetics of familial nonsyndromic auricular reconstruction,2,32,33 followed by canal and middle ear
microtia, it is reasonable to postulate that a gene predisposing to reconstruction. Though there is some controversy as to the best
OAV, hemifacial microsomia, or microtia could be on 14q32 be- timing for reconstruction, many believe the ideal time is before the
cause of linkage in two families.28 It is likely that microtia/anotia can child enters first grade, at age 5 to 6 years. The auricle is usually
be caused by many different genes and that these genes are on nu- more than 90% of its full size by then. One uses the normal ear to
merous chromosomes. The molecular genetics of this heterogeneous develop a template for the reconstruction. In the case of bilateral
malformation will probably be complicated but could provide a atresia, the template can be made from one of the parents’ ears.
paradigm for studying other complex and multifactorial disorders. High-resolution CT is required prior to surgery to delineate the
Table 10-4 includes our current knowledge on the developmental commonly associated ossicular chain defects as well as the anatomy
genes that cause syndromic microtia (e.g., BOR syndrome). of the facial nerve.34
Regardless of philosophy or staged approach, reconstruction
Prognosis, Prevention, and Treatment involves the placement of the selected framework (usually a sculp-
The impact of microtia/anotia is twofold: stigmatization related to ted costal cartilage graft), development of a postauricular sulcus and
the visible craniofacial defect and hearing loss. The child with concha, rotation of the lobule, repair of the atresia and its plate, and
microtia often suffers from psychosocial issues related to the visible the final adjustments of the helix and placement of the auricle. The
defect. The microtic ear draws attention to the difference bet- reconstructed auricle is allowed to heal for a number of months
ween the two ears, and this can be especially problematic during before the canal is reconstructed to ensure the health of the cartilage
the elementary school years when conformity and sameness are so and flaps. In the past, individuals with unilateral microtia with meatal
important. In addition, some children with microtia will have an atresia usually did not have repair of the atresia. However, some
adverse effect from hearing loss. The hearing threshold is usually at investigators feel that the benefits of binaural hearing exceed the risk
about 60 dB in an affected ear. This, of course, is of greater concern of surgery, even the risk of damage to the facial nerve. Approach to
in the child with the bilateral microtia. Even moderate conductive the associated ossicular chain defects is discussed in the sections on
unilateral hearing loss may be an issue in school performance and middle ear malformations (Sections 10.22–10.31).
 Ear 335

In meatal atresia there is usually a firm bony union of the 15. Naunton RF, Valvassori GE: Inner ear anomalies: their association with
malleus with the atretic plate. This needs to be repaired to regain atresia. Laryngoscope 78:1041, 1968.
hearing. Also, in most cases of types II through IV microtia, mal- 16. Calzolari F, Garani G, Sensi A, et al.: Clinical and radiological evaluation
formations of the malleus and incus are present, and there is a high on children with microtia. Br J Audiol 33:303, 1999.
incidence of facial nerve anomalies in these patients. Thus, families 17. Castilla EE, Orioli IM: Prevalence rates of microtia in South America.
Int J Epidemiol 15:364, 1986.
need to be counseled about potential facial nerve injury from
18. Aase LM, Tegtmeier RE: Microtia in New Mexico: evidence for multi-
surgery. Most series indicate an average of a 30 dB increase post- factorial causation. Birth Defects Orig Artic Ser XIII(3A):113, 1977.
operatively. Patients who have a relatively intact middle ear will 19. Mastroiacova P, Corchia C, Bott LD, et al.: Epidemiology and genetics
obviously have better results postoperatively than those who have of microtia-anotia: a registry-based study on over one million births.
major ossicular chain defects. J Med Genet 32:453, 1995.
Hearing restoration can be done using a bone anchored 20. Harris J, Kallen B, Robert E: The epidemiology of anotia and microtia.
hearing aid (BAHA).35 This uses the osseointegration to place an J Med Genet 33:809, 1996.
implant into the mastoid bone. The post is coupled to a device 21. Poswillo D: The pathogenesis of the first and second branchial arch
that translates the auditory signal to vibration, working much like syndrome. Oral Surg 35:302, 1973.
the bone conduction hearing aids but with far superior fidelity. It 22. Online Mendelian Inheritance in Man. http://www.ncbi.nlm.nih.gov.
23. Zankl M, Zang KD: Inheritance of microtia and aural atresia in a family
has also shown remarkable improvement for children with uni-
with five affected members. Clin Genet 16:331, 979.
lateral hearing loss.8 There has been reluctance for the insurers to 24. Orstavik KH, Medbo S, Mair IWS: Right-sided microtia and conductive
cover the cost of this technology, but it can be offered as an al- hearing loss with variable expressivity in three generations. Clin Genet
ternative to surgical hearing reconstruction. 38: 117, 1990.
Complete discussion of aural rehabilitation is beyond the 25. Oliveria CA, Pinheiro LC, Gomes MR, et al.: External and middle ear
scope of this chapter. It is important to note that children with malformations: autosomal dominant genetic transmission. Ann Otol
microtia/anotia require meticulous hearing evaluation in infancy Rhinol Laryngol 98:772, 1989.
and appropriate audiologic management. Conductive hearing aids 26. Gupta A, Patton MA: Familial microtia with meatal atresia and con-
are crucial in children with meatal atresia or other structural causes ductive deafness in five generations. Am J Med Genet 59:238, 1995.
of hearing loss. Preschool programs for infants with mild, mod- 27. Ellwood LC, Winter ST, Dar H: Familial microtia with meatal atresia
in two sibships. J Med Genet 5:289, 1968.
erate, and severe hearing loss exist in most areas of North America,
28. Kelberman D, Tyson J, Chandler DC, et al.: Hemifacial microsomia:
and referral to these programs is important as soon as possible. progress of understanding the genetic basis of a complex malformation
There is at least one instance of prenatal diagnosis of microtia in syndrome. Hum Genet 109:638, 2001.
a fetus with Treacher Collins syndrome.36 The abnormally small ear 29. Rotenberg BW, James AL, Fisher D, et al.: Establishment of a bone-
was recognized at 17 weeks gestation. Mild forms of type I microtia anchored auricular prosthesis (BAAP) program. Int J Pediatr Otorhi-
are probably not able to be diagnosed prenatally. The sensitivity of nolaryngol 66:273, 2002.
prenatal ultrasound in the severe forms of microtia is unknown. 30. Westin T, Tjellstrom A, Hammerlid E, et al.: Long-term study of
quality and safety of osseointegration for the retention of auricular
prostheses. Otolaryngol Head Neck Surg 121:133, 1999.
References (Microtia/Anotia) 31. Tietze L, Papsin B: Utilization of bone-anchored hearing aids in children.
1. Meurman Y: Congenital microtia and meatal atresia. Arch Otolaryngol Int J Pediatr Otorhinolaryngol 58:75, 2001.
66:443, 1957. 32. Brent B: Microtia repair with rib cartilage grafts: a review of per-
2. Augilar EF: Auricular reconstruction in congenital anomalies of the sonal experience with one thousand cases. Clin Plast Surg 29:257, 2002.
ear. Facial Plast Surg Clin North Am 9:159, 2001. 33. Beahm EK, Walton RL: Auricular reconstruction for microtia: part I.
3. Kaye C, Rollnick BR, Hauck WW, et al.: Microtia and associated Anatomy, embryology, and clinical evaluation. Plast Reconst Surg 109:
anomalies: statistical analysis. Am J Med Genet 34:574,1989. 2473, 2002.
4. Bennun RD, Mulliken IB, Kaban LB, et al.: Microtia: a microform of 34. Yeakley JW, Jahrsdoerfer RA: CT evaluation of congenital aural atresia:
hemifacial microsomia. Plast Reconstr Surg 76:859, 1985. what the radiologist and surgeon need to know. J Comput Assist
5. Jafek BW, Nager GT, Strife I, et al.: Congenital aural atresia: an analysis Tomogr 20:724, 1996.
of 311 cases. Trans Am Acad Ophthalmol Otol 80:588, 1975. 35. Snik AF, Mylanus EZ, Cremers CW: The bone-anchored hearing aid in
6. Jahrsdoerfer R: Congenital malformations of the ear: analysis of 94 patients with a unilateral air-bone gap. Otol Neurotol 23:61, 2002.
operations. Ann Otol Rhinol Laryngol 89:348, 1980. 36. Crane IP, Beaver HA: Midtrimester sonographic diagnosis of manbu-
7. Gorlin RJ, Cohen MM Jr, Hennekam RCM: Syndromes of the Head lofacial dysostosis. Am J Med Genet 25:251, 1986.
and Neck, ed 4. Oxford University Press, New York, 2001. 37. Sanchez O, Mendez JR, Gomez E, et al.: [Clinico-epidemiologic study
8. Tewfik TD, der Kaloustian VM: Congenital Anomalies of the Ear, Nose, of microtia]. Invest Clin 38:203, 1997.
and Throat. Oxford University Press, New York, 1997.
9. Rollnick BR, Kaye CI: Hemifacial microsomia and variants: pedigree
10.2
data. Am J Med Genet 15:233, 1983.
10. Llano-Riva I, Gonzalez-del Angel A, del Castillo V, et al.: Microtia: a
Small Ear
clinical and genetic study at the National Institute of Pediatrics in Mexico
City. Arch Med Res 30:120, 1999. The external ear that has normal anatomy or only a minor ab-
11. Kaye C, Martin AO, Rollnick BR, et al.: Oculoauriculovertebral anomaly normality of configuration but has a length of 2 standard devia-
segregation analysis. Am J Med Genet 43:913, 1992.
tion (SD) or more below the mean is considered small. Ear length
12. Cohen MM, Rollnick BR, Kaye CI, et al.: Oculoauriculovertebral
is determined by measuring the ear from the superior helix to the
spectrum: an updated critique. Cleft Palate 126:276, 1989.
13. Jaffe BF: Pinna anomalies associated with congenital conductive hearing lobe. Normal ear length is greater than 30 mm in the full-term
loss. Pediatrics 57:332, 1976. baby. There are standards for plotting ear length at birth and in
14. Bassila MK, Goldberg R: The association of facial palsy and/or sensor- older infants and children (Fig. 10-3).1–5
ineural hearing loss in patients with hemifacial microsomia. Cleft Palate Small but structurally normal ears are a sign of Down syn-
126:287, 1989. drome. Most babies with Down syndrome have mild ear variations,
336 Craniofacial Structures

Fig. 10-3. Curves for normal ear length. Left curve shows growth percentiles from birth to age 14 years. (From
Feingold M, Bossert WH: Normal values for selected physical parameters: an aid to syndrome delineations. BDOAS
X(13):1, 1974.) Right curve shows mean ear length for males (solid line) and females (dashed line) from birth to age 70
years. (From Goodman RM, Gorlin RJ: The Malformed Infant and Child. Oxford University Press, New York, 1983.)

including defects in the lop/cup ear continuum. However, some therefore misses the diagnosis. Recognition is obviously made by
simply have a normal-appearing auricle that is small. Only rarely will examination of the ear canal with an otoscope. High-resolution
a newborn with Down syndrome have an ear measuring over 3.1 cm. computed tomography (CT) scanning is indicated to assess the
The external ear, especially the small ear, attains most of its presence of an atretic bony plate and the status of associated middle
childhood growth by age 5 or 6 years. The etiology and patho- ear ossicular defects.3 Cases with unilateral stenosis or atresia are even
genesis of the small, nonmalformed, nonmicrotic ear are unknown. more difficult to diagnose than bilateral cases.
The physical stigma associated with a small ear is minimal. Atresia of the external meatus may be osseous or membra-
nous. In osseous atresia the tympanic bone is replaced by an atretic
References (Small Ear) plate. Aural atresia (AA) has been classified in various ways. Cre-
1. Hall JG, Froster-Iskenius UG, Allanson JE, et al: Handbook of Normal mers4 divided AA into three types: in type I there is osseous or
Physical Measurements. Oxford University Press, Oxford, 1989. membranous atresia of the auditory canal but an almost normal
2. Jones KL: Smith’s Recognizable Patterns of Human Malformation, medial aspect of the canal and a normal middle ear. Type II, which
ed 5. WB Saunders Company, Philadelphia, 1997. accounts for most of the cases, involves a partially or totally atretic
3. Farkas LG: Anthropometry of the Head and Face. Raven Press, New ear canal with variable involvement of the middle ear. In type III
York, 1994. there is a complete bony meatal atresia, with a very small or absent
middle ear cavity.
Jahrsdoerfer et al.5 proposed a grading system for AA. This sys-
10.3 tem gives points for the presence of normal structures (e.g., stapes
External Auditory Canal Stenosis and present). Higher scores predict better surgical outcome (see be-
Atresia Without Microtia low). Atresia of the auditory canal obviously produces a conductive
hearing loss, which is usually of about 60 dB. In the rare patient
Definition who has a concurrent inner ear abnormality, there may be a mixed
External auditory canal stenosis or atresia without microtia is type of loss. As was mentioned in the discussion of microtia/anotia
narrowing or absence of the external auditory canal without the (Section 10.1), sensorineural hearing loss occurs more commonly
presence of significant external ear malformations. It is usually in association with external and middle ear defects than was orig-
called aural atresia by the otologist. inally proposed in the early otolaryngology literature.
Isolated external auditory canal atresia/stenosis can occur as a
Diagnosis marker for and clue to the deletion 18q syndrome (Table 10-6).
Congenital external auditory canal atresia or stenosis without an Any child with this atresia/stenosis who has other mild mal-
external ear malformation or microtia is uncommon. Few reports of formations, phenotypic variations, or developmental delay should
this malformation were published before the 1980s. The series of 311 be regarded as possibly having this common chromosomal syn-
patients with aural atresia reported by Jafek et al. showed that only 24, drome. Auditory canal stenosis without microtia is also seen in
or about 6%, had atresia without a concomitant microtia.1 Grundfast trisomy 18, in the oculo-auriculo-vertebral spectrum, and in the
and Camilon2 reviewed 10 cases and the world literature. The absence syndrome reported by Rasmussen et al.6 In the latter condition,
of an obvious external malformation hampers early detection, and congenital vertical talus and hypertelorism occur along with atresia
the average age of diagnosis in their series was 2.5 years, with a range of the external auditory canal. None of the kindred had external ear
of 2 months to 7 years. Often the practitioner assumes that the defects. The condition is inherited as a dominant trait and may
narrow or missing ear canal is due to some debris in the canal and represent a submicroscopic 18q deletion.
 Ear 337

Table 10-6. Syndromes associated with meatal atresia defined a critical region of 5 Mb responsible for AA in the 18q
without microtia deletion syndrome.8
Causation
Syndrome Prominent Features Gene/Locus Prognosis, Prevention, and Treatment

Deletion 18q Distinctive face, Chromosomal

When children have bilateral atresia, bone conduction hearing aids
tapered fingers can be placed before the child reaches age 6 months.3,9 Surgery is
usually planned for about ages 5 to 6 years. Reconstruction is de-
Rasmussen Hypertelorism, Uncertain
vertical talus
layed because pneumatization of the mastoid is not complete until
that time. Radiographic evaluation of the middle ear with high-
Trisomy 18 Prenatal growth deficiency, Chromosomal
resolution CT scanning is important to determine the ossicular
distinctive face/hands,
short sternum,
chain defects as well as the anatomy of the facial nerve and mid-
congenital heart disease dle ear cleft. Documentation of a sensorineural component to the
hearing loss is also important for prognostic planning.
Oculo-auriculo- Epibulbar dermoids, Heterogeneous, AD
vertebral spectrum vertebral defects, (164210),
Surgical intervention for auditory canal atresia or stenosis is
variable heart defects AR (257700) performed by an experienced otolaryngologist.10 The procedure
14q1 involves creation of a new ear canal, use of the residual ossicular
Antley-Bixler Choanal atresia, AR (207410)
chain or replacement with an ossicular prosthesis, and creation of
characteristic face, POR, q11 a new tympanic membrane using temporalis fascia and split thick-
humeroradial fusion, ness skin graft. Extreme care is needed during dissection of the
femoral bowing posterior canal because of the abnormal course of the facial nerve.
SAMS Humeroscapular Uncertain (602471) In general, a postoperative hearing level of 30 dB or better can
synostosis, club feet be achieved in 50–75% of patients with aural atresia.3,9 A hearing
level of 20 dB or better is possible in 15–50% of these patients. For
patients with unfavorable anatomy (e.g., lack of middle ear pneu-
matization, facial nerve overlying the oral window), one should
consider bone-anchored hearing aid implantation (BAHA) (see
Etiology and Distribution Section 10.1).
Isolated external auditory canal stenosis without microtia is an un- Children with unilateral atresia also require regular otologic
common defect, accounting for fewer than 10% of all individuals who assessment. The contralateral ‘‘normal’’ side must be monitored
are evaluated by the otologist with meatal atresia, because most have closely for otitis media. These patients are adversely affected from
microtia. No prevalence-at-birth studies are available that provide an even transient hearing loss involving their functionally hearing
estimate of this condition. However, in the Spanish Collaborative ear. The contralateral ‘‘normal’’ side must also undergo hearing
Project, a prevalence of 0.19 per 10,000 births, or about two per testing.
100,000, was listed for various rare ear malformations, including
atretic or stenosed auditory canals with normal auricle (personal References (External Auditory Canal Stenosis
communication: Dr. Maria Luisa Martinez-Frias). This figure is a and Atresia Without Microtia)
rough estimate, since it included other uncommon ear malforma-
1. Jafek BW, Nager GT, Strife J, et al.: Congenital aural atresia: an analysis
tions. However, the estimate must also be considered to be on the low of 311 cases. Trans Am Acad Ophthalmol Otol 80:588, 1975.
side since some babies with the condition may not be detected in the 2. Grundfast KM, Camilon F: External auditory canal stenosis and partial
newborn period. atresia without associated anomalies. Ann Otol Rhinol Laryngol 95:505,
While in microtia with meatal atresia unilaterality is much 1986.
more common than bilaterality, in aural atresia without microtia 3. Krowiak E, Grundfast KM: Congenital malformations of the ear. In:
there was equal occurrence of bilateral and unilateral defects.2 Pediatric Otolaryngology, Wetmore RF, Muntz HR, McGill TJ, eds.
Males and females were equally affected; the male predominance Thiem, New York, 2000.
found in microtia with meatal atresia was not seen. 4. Cremers CWRJ: Meatal atresia and hearing loss. Autosomal dominant
Because the syndromes showing isolated auditory canal atresia/ and autosomal recessive inheritance. Int J Pediatr Otorhinolaryngol
8:211, 1985.
stenosis are generally different from those showing microtia with
5. Jahrsdoerfer RA, Yeakley JW, Aguilar EA, et al.: Grading system for the
meatal atresia, this defect probably reflects a unique alteration in selection of patients with congenital aural atresia. Am J Otolaryngol
morphogenesis. It is also of note that, in the few familial cases, the 13:6, 1992.
degree and frequency of ossicular chain abnormalities are less than 6. Rasmussen N, Johnsen NJ, Thomsen J: Inherited congenital bilateral
what is usually seen in microtia with meatal atresia. As was noted atresia of the external auditory canal, congenital bilateral vertical talus
above, the sex ratio and sidedness differ from those in atresia with and increased interocular distance. Acta Otolaryngol 88:296, 1979.
microtia. These facts support the notion that this anomaly is a dif- 7. Robinow M, Jahrsdoerfer RA: Autosomal dominant atresia of the
ferent alteration in morphogenesis. auditory canal and conductive deafness. Am J Med Genet 4:89, 1979.
Besides the family reported by Rasmussen et al.6 in whom the 8. Veltman JA, Jonkers Y, Nuijten I, et al.: Definition of a critical region
meatal atresia occurred as part of a syndrome, three other families on chromosome 18 for congenital aural atresia by arrayCGH. Am J
Hum Genet 72:1578, 2003.
have exhibited generation-to-generation transmission, suggesting
9. Declau F, Cremers C, Van de Heyning P: Diagnosis and management
dominant inheritance. The family in the Robinow and Jahrsdoer- strategies in congenital atresia of the external auditory canal. Study
fer7 study showed male-to-male transmission, indicating auto- Group on Otological Malformations and Hearing Impairment. Br J
somal dominant inheritance in that kindred. Thus, atresia of the Audiol 33:313, 1999.
auditory canal without microtia is inherited in an autosomal 10. Lambert PR, Dodson EE: Congenital malformations of the external
dominant fashion in some of the cases. Recently, Veltman et al. auditory canal. Otolaryngol Clin N Am 29:741, 1996.
338 Craniofacial Structures

10.5
Large Ear (Macrotia)

Definition
Large ear (macrotia) is an alteration in which the length of the
auricle is increased above the 97th percentile on standard curves
(Fig. 10-5).

Diagnosis
The diagnosis of large ear (macrotia) is made simply by measuring
the length of the external auricle. This is accomplished by taking the
measurement between the superaurale, which is the highest point
of the free margin of the auricle, and the subaurale, which is the
lowest portion of the free margin of the ear lobe. This can be done
with a standard ruler or tape measure, and the value can be plotted
in the available curves, many of which are in standard texts.1,2 At
birth, the ear usually measures less than 4.2 cm. The ear grows
steadily throughout the first 2 years of life and then slows in growth
until age 5 years, when the slowing increases. The large ear is often
Fig. 10-4. Cryptotia. Incomplete separation of the superior and
prominent or protruding.
posterior aspects of the pinna from the scalp. (From Aase JM: Probably the most important syndrome to consider in in-
Diagnostic Dysmorphology. Plenum Press, New York, 1990.) dividuals with macrotia is the fragile X syndrome. This disorder is
rarely noted in infancy and early childhood, so the actual growth
curve of the ear in the fragile X syndrome is unknown. However, in
10.4 the older child, especially in a boy with mental retardation, this is
Cryptotia an important marker. There are a number of other syndromes in
which macrotia has been recorded, and these have been summa-
Cryptotia is an uncommon defect of the auricle in which there is rized by Gorlin and coworkers3 and Tewfik and der Kaloustian4
incomplete separation of the posterior aspect of the superior helix (Table 10-7). Large ears are also found in the oligohydramnios
and the adjoining scalp (Fig. 10-4). The diagnosis is made entirely sequence and may be due to external compression.5
by observation; the examiner simply tugs on the helical fold and
discovers the lack of separation. Etiology and Distribution
Cryptotia is usually an isolated defect, but it does occasion- Although no specific prevalence studies have been performed to
ally occur as part of a syndrome. The Fraser cryptophthalmos examine the frequency of large ears, macrotia by definition does
syndrome and trisomy 18 are the two most commonly associated occur in 3% of individuals. This, then, is not strictly a malformation
entities. Cryptotia is also seen in the Carmi form of epidermolysis but really is an excessive growth phenomenon. However, in-
bullosa. However, cryptotia usually is nonsyndromic. Unless it is trauterine constraint due to oligohydramnios could be a pathoge-
part of a syndrome, this defect is not usually associated with netic mechanism inducing excessive growth of the ear.5 The large,
other external, middle, or internal ear changes. Familial cryptotia unfolded, floppy ear is one of the craniofacial features recognized by
has been described in one occasion.1 Potter in the disorder that bears her name, that is, the Potter syn-
Japanese investigators have emphasized that cryptotia seems drome (also called oligohydramnios sequence).
to occur much more commonly in Japan than elsewhere in the
world.2 The frequency of cryptotia in Japan is one in 400. No
Prognosis, Prevention, and Treatment
other epidemiologic information is available on the nature and
determinants of this defect. The major impact of macrotia is the stigmatization associated
Plastic surgeons in Japan have developed a number of tech- with prominent ears. Surgical reduction of ear size in individuals
niques and approaches for the treatment and repair of cryptotia.2–5 with macrotia is uncommon.
Basically, the repair consists of soft tissue separation and grafts and
is usually successful. References (Large Ear/Macrotia)
1. Jones KL: Smith’s Recognizable Patterns of Human Malformation, ed 5.
References (Cryptotia) WB Saunders Company, Philadelphia, 1997.
1. Hayashi R, Matsuo K, Hirose T: Familial cryptotia. Plast Reconst Surg 2. Hall JG, Froster-Iskenius UG, Allanson JE, et al.: Handbook of
91:1337, 1993. Normal Physical Measurements. Oxford University Press, Oxford,
2. Matsuo K, Hayashi R, Kiyono M, et al.: Nonsurgical correction of 1989.
congenital auricular deformities. Clin Plast Surg 17:383, 1990. 3. Gorlin RJ, Cohen MM, Hennekan R: Syndromes of the Head and
3. Park C: Correction of cryptotia using an external stretching device. Neck, ed 4. Oxford University Press, New York, 2002.
Ann Plast Surg 48:534, 2002. 4. Tewfik TD, der Kaloustian VM: Congenital Anomalies of the Ear,
4. Paredes AA Jr, Williams JK, Elsahy NL: Cryptotia. Clin Plast Surg Nose, and Throat. Oxford University Press, New York, 1997.
29:317, 2002. 5. Aase JM: Structural defects as a consequence of late intrauterine
5. Hirose T, Tomono T, Matsuo K, et al.: Cryptotia: our classification and constraint, craniotabes, loose skin and asymmetric ear size. Semin
treatment. Br J Plast Surg 38:352, 1985. Perinatol 7:270, 1983.
 Ear 339

Fig. 10-5. Macrotia. Large ear in a 2-month-old infant with microcephaly of unknown cause (A), in a male
aged 2 years 9 months with fragile X syndrome (B), and in an adult female carrier of the fragile X chromosome
(C). Note the lack of helical folding.

Table 10-7. Syndromes that include macrotia

Causation
Syndrome Prominent Features Gene/Locus

Borjeson-Forssman-Lehmann Coarse face, mental retardation, XLR (301900)

hypogonadism PHF6, Xq26
Fragile X Long face, large testes, lax joints XLR (309550)
FMR1, Xq27
Langer-Giedion Microcephaly, exostoses, facial features similar Chromosomal (150230)
to those in tricho-rhino-phalangeal I 8q24
Melnick-Needles Distinctive face, skeletal changes XLR (309350)
FLNA, Xq28
Pallister-Killian Pigmentary dysplasia, distinctive face, Chromosomal
mental retardation
Weaver Distinctive face, macrosomia, camptodactyly Unknown (277590)
Some cases with NSD1
(5q35) mutations
Oligohydramnios Canthal folds, depressed nasal tip, joint Heterogeneous
contractures, lung hypoplasia
Lamotte Prenatal growth deficiency, hypertelorism, AR (245552)
preaxial polydactyly, distinctive face
Nance-Horan Nystagmus, dental anomalies, cataracts, XLR (302350)
short metacarpal NHS, Xp22

child’s defect appears to be an enlarged accessory appendage. The

10.6 patient of von Bol and de Kleyn1 had a left-side cleft lip and cleft
Polyotia palate as well as an ocular dermoid, so this individual may have had
the oculo-auriculo-vertebral (OAV) spectrum. Recently other cases
True and complete duplication of the external auricle is very rare; have been presented.3,4
many reviewers state that the case of von Bol and de Kleyn1 was the The birth prevalence of polyotia is obviously low, given only a
first authentic case of a true duplication defect. In this patient, the few widely agreed upon cases. It is of note that the patients of von
infant had a left ear with two external auricles facing each other as Bol and de Kleyn1 and Bendor-Samuel et al.3 had no tragus in the
a mirror image. Both were fully developed, but a tragus was lacking. duplicated auricles, because some investigators believe that the
Most cases of alleged polyotia are examples of large auricular ap- tragus is the only hillock derived from the first branchial arch.5 This
pendages. The case reported by Gadre et al.2 of an individual with suggests that true polyotia in this case may represent a true du-
polyotia and the de Lange syndrome is unconvincing in that this plication of the hillocks that were part of the second branchial arch.
340 Craniofacial Structures

The distinction between accessory appendages and true polyotia series of four patients. Most of the case reports of this uncommon
may be moot if one assumes that auricular appendages are dupli- defect do not document other abnormalities, but two of the pa-
cated structures of the auricular hillocks in the first place. Large tients reviewed by Altmann3 did have microtia.
auricular appendages then would represent duplication of more of
the hillocks, with occasional total duplication of the hillocks. Etiology and Distribution
Surgical reconstruction has been successful in true polyotia as The frequency of these duplication defects is unknown. Aronsohn
it is in individuals with auricular appendages.3,4 et al.2 were able to collect 11 cases seen over a 40-year period at
the University of Michigan. Most were children presenting with a
References (Polyotia) mass in the preauricular region. The pathogenesis of this unusual
1. von Bol G, de Kleyn A: Uber einer fall von polyotic. Acta Otolaryngol defect is unknown. The hypothesis that these cystic structures
1:187, 1918. represent a duplication anomaly of the first branchial cleft makes
2. Gadre AK, Patil DP, Iyer D, et al.: Duplication of the pinna (polyotia) in sense embryologically, with the type II defects actually having
a case of Brachmann-de Lange syndrome. Br J Plast Surg 40:642, 1987. both ectodermal and mesenchymal (cartilaginous) remnants in
3. Bendor-Samuel RL, Tung TC, Chen YR: Polyotia. Ann Plast Surg
the structure.
34:650, 1995.
4. Ku PK, Tong MC, Yue V: Polyotia—a rare external ear anomaly. Int J Prognosis, Prevention, and Treatment
Pediatr Otorhinolaryngol 46:117, 1998.
5. Black FO, Myers EN, Rorke LB: Aplasia of the first and second Surgical removal of the entire sac is important; without this, re-
branchial arches. Arch Otolarynol 98:124, 1973. currence is common. This particular point has been emphasized
by Aronsohn et al.2 in their review of the University of Michigan
experience. Repeated incisions and drainage will occur unless the
10.7 diagnosis of these defects is made. As is the case in other external
Duplication of the External Auditory Meatus ear defects, careful determination of the location of the facial
nerve is crucial.
Definition These lesions could be mistaken for a branchial cleft related to
Duplication of the external auditory meatus is a cyst and/or sinus the second branchial groove. However, the latter lesions are more
tract located in the preauricular area in close proximity to the ex- commonly found in the carotid triangle, and the external opening
ternal auditory canal, believed to be duplication of the first bran- usually occurs anterior to the sternocleidomastoid muscle. Histo-
chial cleft. logically, the lesions in the second branchial arch cervical cysts do not
keratinize, whereas these duplication anomalies of the first branchial
Diagnosis cleft do keratinize. Wittekindt et al.5 detailed their surgical experi-
Cysts or sinus tracts representing duplication defects of the first ence and expressed concern about the need for adequate incision and
branchial cleft or groove are found in the region of the external drainage procedures because of the risk of recurrent infection.
auricle and external auditory canal.1,2 Earlier work has classified
these defects as either type I or type II.1 Type I defects involve the References (Duplication of the
membranous canal and are histologically epidermoid cysts; these External Auditory Meatus)
sacs have no cartilage or adnexal structures and course medially, 1. Work WP: Developments of first branchial cleft defects. Laryngoscope
inferiorly, and posteriorly to the pinna. Drainage can occur from 82:1581, 1972.
the cystic structure, but there is no external pit nor any asso- 2. Aronsohn RS, Batsakis JG, Rice DH, et al.: Anomalies of the first
ciation with auricular tags. These first branchial cleft sinuses/cysts branchial cleft. Arch Otolaryngol 102:737, 1976.
3. Altmann F: Malformations of the auricle and the external auditory
are internal, and these defects usually present as a mass or
meatus. Arch Otolaryngol 54:115, 1951.
abscess.
4. Blevins NH, Byahatti SV, Karmody CS: External auditory canal duplica-
Type II lesions, which are more common than type I, involve tion anomalies associated with congenital aural atresia. J Laryngol Otol
apparent duplication of the membranous and cartilaginous por- 117:32, 2003.
tions of the external auditory canal. These cysts/sinuses contain 5. Wittekindt C, Schondorf J, Stennert E, et al.: Duplication of the external
skin with adnexal structures and cartilage and often connect with auditory canal: a report of three cases. Int J Pediatr Otorhinolaryngol
the auditory canal and extend into the neck. The drainage site is 58:179, 2001.
occasionally below the angle of the mandible.
Both type I and type II cysts often originate in the external
auditory canal. Recurrence of the cyst with secondary infection is 10.8
common unless the entire sac is removed. Synotia/Otocephaly
Altmann3 refers to these anomalies as colloaural fistulas. These
tracts apparently open into the external auditory meatus but Definition
usually not into the middle ear. Altmann3 has reviewed some of the Synotia/otocephaly is a malformation involving the mandible and
unusual colloaural fistulas, including one associated with microtia external ears, consisting of marked underdevelopment or almost total
in which a second tract was attached to the original fistula tract, absence of the mandible and the presence of the external auricles
which extended into the middle ear. In another frequently men- anteriorly and inferiorly, approaching fusion near the midline. This
tioned case of Virchow’s, the tract actually began at a preauricular spectrum of defects includes synotia, agnathia, otocephaly, and
appendage and proceeded into the posterior tonsillar pillar just agnathia-holoprosencephaly.
behind the upper tonsil.
Most duplication anomalies of the first branchial cleft are Diagnosis
isolated features and are not part of a syndrome. Blevins et al.4 This complex early defect in craniofacial development is easily
reported a patient with Treacher Collins syndrome in their recent diagnosed by inspection on physical examination (Fig. 10-6). The
 Ear 341

Fig. 10-6. Synotia. Sketches of infants with otocephaly showing variable configuration of the ears and other
facial structures. (From Gorlin et al.1)

mandible is either totally missing or very small, with the external mice, who also have holoprosencephaly. Clarke et al.9 have docu-
ears present near the midline in the usual place of the mandible. A mented the frequency of agnathia, referred to as aglossia, in C57 and
very small or absent oral opening is a consistent feature, and there is C3H mice, to be approximately one in 200. This defect in C57 mice is
often persistence of the buccopharyngeal membrane. Because of sporadic. Holoprosencephaly has not been sought in this mutant,
the respiratory difficulties and the associated central nervous sys- although choanal atresia and aglossia are present. Mice heterozygous
tem defects, all children with this malformation have died in the for Otx2 have otocephaly or agnathia-holoprosencephaly,10 indica-
perinatal period. Gorlin et al.1 recently reviewed the literature on ting that this is a candidate gene in the human form.
this disorder. The facial defect may occur alone or in association Otocephaly has been produced in experimental models in
with holoprosencephaly. This particular combination is probably laboratory rodents using streptonigrin, trypan blue, hyperthermia,
a unique developmental defect. Most individuals who have the and X irradiation.11 The defect also occurs spontaneously in sheep,
agnathia-holoprosencephaly defect have cyclopia as opposed to rabbits, and guinea pigs as well as in mice.
the other holoprosencephalic facies. Since there are only two
known recurrences of otocephaly,2,3 and the sibs both had agnathia Prognosis, Prevention, and Treatment
and holoprosencephaly as part of the disorder, it is difficult to
Otocephaly invariably results in death in newborns. As was men-
know whether isolated synotia/otocephaly is part of the agnathia-
tioned above, this is probably due to marked respiratory deficiency
holoprosencephaly continuum.
resulting from the persistence of the buccopharyngeal membrane
Over 100 cases have been reported in the medical literature. A
and frequent choanal atresia. The association of holoprosencephaly
number of the individuals have other associated malformations, but,
in many of the reported cases also probably adds a factor of lethality
as was mentioned above, the combination of agnathia and holopro-
to this complicated developmental defect. Prenatal diagnosis by ul-
sencephaly is probably the most important associated defect. Pauli
trasound has occurred on several occasions.12 Given the severity of
et al.,4 Stoler and Holmes,5 Ozden et al.,6 and others have described
morphologic findings in this disorder and its associated malforma-
cases of agnathia with situs in versus, vertebral defects, and renal
tions, most cases could likely be detected by 16 to 20 weeks of
malformations. The latter combination may represent a distinct pat-
gestation using high-resolution ultrasound.
tern of malformation of unknown etiology. One important observa-
tion of agnathia and one of the only occurrences in sibs was made by
Pauli et al.2 This family included two sibs, one who had cebocephaly References (Synotia/Otocephaly)
and agnathia and the other who had a milder craniofacial defect with 1. Gorlin RJ, Cohen MM Jr: Syndromes of the Head and Neck, ed 3.
severe micrognathia and arhinencephaly on autopsy. This particular Oxford University Press, New York, 1990.
combination of sibs has been widely cited as one of the few examples 2. Pauli RM, Pettersen JC, Arya S, et al.: Familial agnathia-holoprosen-
of familial agnathia/otocephaly among humans. It has recently been cephaly. Am J Med Genet 14:677, 1983.
3. Porteous ME, Wright C, Smith D, et al.: Agnathia-holoprosencephaly:
documented that this family had an unbalanced chromosome finding
a new recessive syndrome? Clin Dysmorphol 2:161, 1993.
involving 6p and 18p.7 One of the stillborn infants in the original series
4. Pauli RM, Graham JM, Barr M: Agnathia, situs inversus and associated
was rekaryotyped and was found to have a derivative chromosome 18 malformations. Teratology 23:85, 1981.
and to be partially trisomic for the distal part of 6p and monosomic 5. Stoler JM, Holmes LB: A case of agnathia, situs inversus, and a normal
for the distal half of 18p. A number of other congenital defects have central nervous system. Teratology 46:213, 1992.
been reported in cases of agnathia, but no syndrome pattern has 6. Ozden S, Bilgic R, Delikara N, et al.: The sixth clinical report of a rare
emerged other than those mentioned above. association: agnathia-holoprosencephaly-situs inversus. Prenat Diagn
22:840, 2002.
Etiology and Distribution 7. Krassikoff N, Sekhon GS: Letter to the editor: familial agnathia-
The precise frequency of otocephaly is unknown. There were two holoprosencephaly caused by an inherited unbalanced translocation
and not autosomal recessive inheritance. Am J Med Genet 34:255, 1989.
cases among 200,000 births in the Spanish Collaborative Project,
8. Juriloff DM, Sulik KK, Roderick TH, et al.: Morphogenesis of sponta-
giving a birth prevalence of approximately one in 100,0005 (per-
neously occurring otocephaly in a mouse mutant. Teratology 21:47A, 1980.
sonal communication: Dr. Maria Luisa Martinez-Frias). Gorlin 9. Clarke L, Hepworth WB, Carey JC, et al.: Chondrodystrophic mice
et al.1 cited a prevalence of one in 60,000. with coincidental agnathia. Teratology 38:565, 1988.
Various authors have postulated that the basic defect in the 10. Hide T, Hatakeyama J, Kimura-Yoshida C, et al.: Genetic modifiers of
pathogenesis of otocephaly is an alteration in neural crest migration. otocephalic phenotypes in Otx2 heterozygous mutant mice. Develop-
Juriloff et al.8 have described an autosomal recessive version among ment 129:4347, 2002.
342 Craniofacial Structures

11. Santana SM, Alvarez SM, Alabern C, et al.: Agnathia and associated determined (a line connecting the glabella with the most promi-
malformations. Dysmorphol Clin Genet 1:58, 1987. nent portion of the upper lip), and a perpendicular line is then
12. Ebina Y, Yamada H, Kato EH, et al.: Prenatal diagnosis of agnathia- made from the highest point of the external meatus to this profile
holoprosencephaly: three-dimensional imaging by helical computed line. If this line falls below the upper edge of the alae nasi, the ear
tomography. Prenat Diagn 21:68, 2001. canal is low-set.
Two other criteria have been suggested in the pediatrics and
dysmorphology literature to define low-set ears. The most widely
10.9
mentioned and cited are those of Feingold and Bossert.2 The tech-
Low-set Ears
nique involves using a piece of radiograph material that is pliable. A
series of parallel lines are drawn on the paper, and a line drawn
Definition
between the inner canthi is extended back to the top of the auricle.
Low-set ears are auricles situated low on the lateral face. The percentage of auricle above the line, or millimeters reached
above this line, is recorded, and percentiles are plotted. This mea-
Diagnosis
surement obviously depends on the posterior rotation of the auricle
The term low-set ears refers to the observation that the auricle as well as the normality of the superior aspect of the pinna. A lop/cup
or perhaps the meatus is situated low on the individual’s face or type I microtia ear would probably fall in the lower percentiles of
(Figs. 10-7 and 10-8). This disorder has received much attention in these curves.
the pediatrics and genetics literature over the last few decades. In Aase3 has suggested that a clinically easy way to measure low-
fact, the observation of low-set ears is one of the more common set ears is to take a line that is perpendicular to the lateral aspect of
observations that the clinician makes when looking at a child who the orbit. This line should cross near the superior attachment of the
may have a multiple anomalies syndrome. However, the designa- ear. If it does not, the ear is considered low-set. The syndromes that
tion of low-set ears is not as useful clinically as is commonly involve low-set ears obviously overlap with syndromes that pro-
thought. In fact, ‘‘low-set’’ ears are usually due to one of the fol- duce microtic ears (Table 10-4), lop/cup ear malformation (Table
lowing four reasons: the ears are small, the ears are posteriorly 10-8), and posteriorly rotated ears.
rotated along their longitudinal axes, the ears are overfolded as in a As was mentioned in Section 10.1, there is a purported as-
lop configuration, or the appearance of low-set ears is an illusion sociation mentioned in the pediatric and otolaryngology literature
due to head tilting or the shape of the cranium. Rarely, an auricle is of ear and kidney defects. The implication of this association is
truly low-set, without posterior rotation. It makes more sense that, when the clinician sees an ear abnormality, he or she should
clinically to refer to the more specific observation, that is, small ear, consider a renal malformation. This particular association is men-
lop ear, or posteriorly rotated ears. However, it is prudent at least tioned in most standard pediatrics textbooks and probably has
to review the different criteria that investigators have used to define resulted in many children over the last few decades undergoing
this disorder. invasive urologic studies. The question really comes down to
Farkas1 has indicated that perhaps the best way to look at the following: is there some special developmental relationship
low-set ears is really to look at the bony meatus and its re- between the external ear and the renal system that is unique
lationship to the face. He makes a clear and important distinction and beyond the pleiotropic relationship that exists when ear and
between ears that are low-set and ears that are posteriorly inclined kidney malformations are both present as components of heri-
or posteriorly rotated. Because the ear and its cartilage are a soft table syndromes? If there is such a relationship, then one could
tissue structure with many variables, Farkas prefers looking at the use an external ear defect as a marker to suggest a kidney mal-
relationship of the external meatus to the midface. His criteria for formation. The first mention that the ears and kidneys may be
determining low-set ears are as follows: a special profile line is related comes from the concurrence of ear abnormalities and
renal malformations in the so-called Potter syndrome. It is now
known, of course, that the Potter ‘‘syndrome’’ represents a se-
Fig. 10-7. Schematic showing ear placement relative to a horizontal
quence in which the external, nonrenal defects are secondary to
line through the outer canthi of the eyes. Ears are considered low
set when the root of the helix is below this line (see also Fig. 10-9). oligohydramnios. This being the case, the ear findings in the
(Courtesy of Dr. Paul R. Dyken, University of South Alabama College of Potter syndrome really are secondary to the oligohydramnios,
Medicine, Mobile.) which is secondary to the intrauterine renal oliguria rather than
there being some special developmental relationship between the
ears and the kidneys. Many of the cases cited suggesting a special
developmental relationship between the ears and kidneys were
children who had syndromes, often the oculo-auriculo-vertebral
spectrum, in which renal malformations sometimes occur.4,5
These papers also reported individuals who would now be con-
sidered to have the branchio-oto-renal syndrome. The range of
renal defects is usually quite wide, and often they are of minimal
medical significance, such as a bifid ureter. Melnick and Myr-
ianthopoulos6 have emphasized the potential relationship between
the kidney and the ears. They cite results from the Perinatal Colla-
borative Project as evidence for such an association; however, it is
difficult to conclude from these data that there is any special re-
lationship between the kidneys and the external ear. The odds ratio
that is cited involves bifid ureters, and most of the children in the
control group would not have undergone a urologic investigation.
 Ear 343

Fig. 10-8. Low-set ears. Measurement of portion of ear (A) and percentage of ear (B) above the level of the
eyes. (From Feingold and Bossert.2)

Thus, there is no conclusive epidemiologic evidence of an increased birth prevalence figures. However, as was mentioned above, the
risk of renal malformations associated with ear malformations other determination of low-set ears is somewhat artificial, so this pre-
than the relationship that exists in known, identifiable syndromes. valence figure is not helpful. Posteriorly rotated ears can be defined
Recently, Wang et al.7 showed that a renal investigation is only by percentiles based on data of Farkas.1
necessary in the patient who has a syndrome in which kidney defects
occur. References (Low-set Ears)
The other problem in this discussion has to do with the issue of 1. Farkas LG: Anthropometry of the Head and Face in Medicine. Raven
what type of ear malformation would suggest a kidney defect in the Press, New York, 1994.
first place. This could include almost any auricular defect. In the 2. Feingold M, Bossert WH: Normal values for selected physical para-
early papers in the otolaryngology literature, there was no distinction meters: an aid to syndrome delineation. Birth Defects Orig Artic Ser
X(13):1, 1974.
between grades of severity that would suggest a kidney problem.
3. Aase JM: Microtia-clinical observations. Birth Defects Orig Artic Ser
Considering simply nonsyndromic microtia, there still appears to be
XVI(4):289, 1980.
no conclusive evidence warranting routine imaging studies in chil- 4. Hilson D: Malformations of the ear as a sign of malformation of the
dren with microtia or low-set ears. genitourinary tract. Br Med J 2:785, 1957.
5. Taylor WC: Deformity of ear and kidney. Can Med Assoc J 93:107, 1965.
6. Melnick M, Myrianthopoulos NC: External ear malformations: epide-
Etiology and Distribution
miology, genetics, and natural history. Birth Defects Orig Artic Ser XV(9):
Prevalence studies of ear malformations have not recorded low-set 1, 1979.
ears in particular. Since type I microtia and lop/cup ears fall into 7. Wang RY, Earl DL, Ruder RO, et al.: Syndromic ear anomalies and
this category, one could at least estimate their frequency from those renal ultrasounds. Pediatrics 108E:32, 2001.
344 Craniofacial Structures

mandible, does not rotate properly to the side of the face. The actual
10.10 frequency of posteriorly rotated ears is unknown, but, if one uses the
Posteriorly Rotated Ears percentiles in Farkas’1 curve, 2% of people would fall below the curve
by definition alone. Mild degrees of posterior angulation are very
Definition nonspecific and common and are not particularly useful in the re-
Posteriorly rotated ears are a variation of the external ear in which cognition of syndromes.
the vertical axis of the ear is rotated posteriorly (Fig. 10-9). An Posteriorly rotated ears are a variation of ear development
extreme degree of this posterior rotation is sometimes called melotia. that is perceived as stigmatizing or of visual significance to the
individual. In the person who has an extreme degree, as in Turner
Description syndrome, reconstructive surgery is an option.
Posteriorly rotated ears are an important cause of the commonly
cited finding of low-set ears. In fact, the majority of infants who References (Posteriorly Rotated Ears)
are labeled as having low-set ears either have posteriorly rotated 1. Farkas LG: Anthropometry of the Head and Face. Raven Press, New
ears or the observation of low-set ears represents an illusion. The York, 1994.
diagnosis is made on physical examination. Farkas1 has developed 2. Jones KL: Smith’s Recognizable Patterns of Human Malformation,
criteria and normal angles for rotation of the external ear. Pos- ed 5. WB Saunders Company, Philadelphia, 1997.
3. Aase JM: Diagnostic Dysmorphology. Plenum, New York, 1990.
teriorly rotated ears are defined as an increased posterior rotation
of the auricle on its longitudinal-vertical axis. This angulation is
measured by establishing the Frankfurt horizontal (FH), dropping
a perpendicular line onto the FH at the ear, and measuring the 10.11
angulation away from the vertical. Range of normal in school- Lop/Cup Ear Anomaly
aged children is usually between 108 and 208. Melotia is a term
used in the older literature to refer to a strikingly posteriorly Definition
rotated ear where the actual longitudinal axis of the ear is almost Lop/cup ear anomaly is an anomaly of the auricle involving a
parallel to the body of the mandible and the ear may be situated downward folding and deficiency of the superior aspect of the
close to the angle of the mandible on the cheek. Posteriorly ro- helix, often associated with an exaggerated or overdevelopment of
tated ears occur as a nonspecific variation in a number of chro- the concha. Lop/cup ear represents underdevelopment or hypo-
mosome conditions, but in particular they are seen in Turner plasia of the superior one-third of the auricle. It is sometimes re-
syndrome and Noonan syndrome.2 ferred to as constricted ear and overlaps with type I microtia.
The etiology and pathogenesis of posteriorly rotated ears as a
variation and malformation are unknown. Certainly, the disorder Diagnosis
could be perceived as a developmental arrest; that is, the external ear, The lop/cup ear defect represents one of the common and more
which normally is situated in some degree parallel to the developing important alterations of the external ear. The line of separation
between the lop/cup ear and microtia type I is hard to draw, and
Fig. 10-9. Schematic showing posterior rotation of the ear with certainly some ears described as showing type I microtia fall into this
the angle (arrow) between the facial plane (C,D) and the long axis group. As was pointed out by Rogers,1 a confusing array of terms has
of the ear (B) exceeding 208. The ear shown here is also low set, been applied to this class of external auricular defect. Many of the
with the attachment of the root of the helix below a horizontal terms are derogatory and pejorative but are used in the literature;
line extending from the outer canthus of the eye (A). (Adapted examples include bat ears, simple ears, satyr ears, and elf ears.
from Aase.3) This defect probably represents a continuum of alterations of
plical folding of the auricle. It could on some occasions be the result
of deforming forces and at other times be a true alteration of the
morphogenesis (malformation) of intrinsic muscles and/or carti-
lage folding. There is no standard definition in the plastic surgery
and otolaryngology literature for the lop/cup ear defect, and dif-
ferent authors use the term in different ways. Since Rogers so
clearly demonstrated a continuum of ear defects, the present au-
thor has chosen to refer to this defect as the lop/cup ear anomaly.1
Tanzer2 has labeled this defect constricted ear and has divided
it into groups I through III according to the surgical challenges
(Fig. 10-10). Group I defects represent the more traditional lop ear
and involve an overfolding of the helix along its superior rim, pro-
ducing some decrease in height and a flattening of the superior helix/
scapha region. Sometimes the folded helix is so closely adherent to the
scapha tissue that it appears to be attached. Group II anomalies are
more noticeable and involve both the helix and the adjoining scapha.
The lack of cartilage folding involves the crura of the anthelix, and the
anthelix itself may be flattened. There is a more striking hood, and the
length of the ear is reduced. A prominence or protrusion of the ear is
usually found, and there is an exaggerated overdevelopment of the
cup-shaped, concave concha. The defect is usually what Rogers has
 Ear 345

As in microtia, the lop/cup ear raises the question of hearing loss,

but the association is not as frequent. The severe end of the spectrum
probably represents a malformation and thus is more commonly
associated with middle ear defects, as is microtia, while milder degrees
of the defect may more often be a deformation and are rarely asso-
ciated with middle ear changes.
Most affected individuals seeking plastic surgery have the lop/cup
ear as an isolated defect and not as part of a well-defined syndrome.
No studies actually give a frequency figure of associated malforma-
tions. However, in the Spanish Collaborative Project, about 25% of
the cases listed as ‘‘dysplastic ear’’ had this as part of a syndrome
(personal communication: Dr. Maria Luisa Martinez-Frias). This
probably represents at least some estimation of the frequency of this
problem occurring as part of a syndrome. Most of the syndromes that
include microtia/anotia can also involve this milder auricular ab-
normality. Table 10-8 lists the syndromes that have lop/cup ear
anomaly as a component manifestation and rarely have microtia II
Fig. 10-10. Lop/cup ear. This anomaly is characterized by through IV. It is important to underscore that the line between milder
underdevelopment of the superior one-third of the pinna and degrees of microtia and the lop/cup ear defect is not easily drawn.
downward folding of the superior helix. It is closely related to
microtia (see Fig. 10-2). (From Aase JM: Diagnostic Etiology and Distribution
Dysmorphology. Plenum, New York, 1990.)
Because of definitional issues, it is difficult to estimate a precise
prevalence-at-birth figure for the lop/cup ear defect. In the Melnick
called the cup ear and has components of both lop ear and protruding and Myrianthopoulos3 review of the Perinatal Collaborative Pro-
ear.1 Group III of the lop/cup ear defect is a severe version of group II, ject, 61 infants, for a rate of 11.45 in 10,000 or just under one in
and the auricle is markedly rolled over the inferior portion of the ear, 1000 infants, were labeled as having ‘‘other malformed pinna.’’ The
so the ear is always low-set on the cranium. The term cockleshell ear has frequency of the ‘‘dysplastic ear’’ in the Spanish Collaborative
been used to refer to this group III defect. Project is 5.47 in 10,000 or just under one in 2000. Thus, a figure of

Table 10-8. Syndromes that include lop/cup ear anomaly (occasionally having microtia types II–IV)
Causation
Syndrome Prominent Features Gene/Locus

Branchio-oto-renal Branchial sinuses, ear and renal anomalies AD (113650)

EYA1, 8q
Familial blepharophimosis Blepharophimosis, ptosis, epicanthus inversus, AD (110100)
subfertility in females FOXL2, 3q23
Fraser Cryptophthalmia, syndactyly, Müllerian defects, renal agenesis AR (219000)
FRAS1, 7q
Kabuki Distinctive face, cleft palate, short stature AD (147920)
LADD Lacrimal (nasolacrimal duct obstruction, auricular AD (149730)
(hearing loss and cup-shaped pinnae), dental anomalies
(small lateral incisors), digital anomalies (variable)
Lee Distinctive face, premature aging, short stature Uncertain
LMC Micrognathia, conductive hearing loss AD
Mengel Unusual ear defects, conductive hearing loss, mental AR (221300)
retardation, hypogonadism
Oto-facio-cervical Long face, narrow nose, ear pits, web neck, sloping shoulders, AD (166780)
cervical fistulas (?same as branchio-oto-renal syndrome)
Townes-Brocks Imperforate anus, triphalangeal thumb and other digital AD (107480)
anomalies, absence or fusion of foot bones, hearing loss SALL1, 16q
Tricho-rhino- Sparse hair, prominent nose, epiphyseal dysplasia AD (190350)
phalangeal TRPS1, 8q24
Trisomy 21 Flat facies, upslanting palpebral fissures, small mouth, Chromosomal
short stature, brachydactyly, mental retardation
Del 4q Cleft palate, nail defect—second digit, mental retardation Chromosomal
346 Craniofacial Structures

about one in 1000 to 2000 gives some idea of the birth prevalence. established. In the Japanese experience, with the high frequency of
These figures are in contrast to the Japanese experience. Matsuo and the lop ear defect, many babies whose ears are splinted undergo this
colleagues4 indicated that the frequency of the lop ear was 38.1% at therapy unnecessarily, since over 80% of cases resolve on their own.
birth and 6.1% at age 1 year. These investigators as well as others in More recently, Ullmann et al.12 reported their results using early
Japan have developed strategies of nonsurgical correction of con- splinting with PuttySoft; 87% were graded as ‘‘excellent.’’ It may be
genital auricular defects. The fact that the frequency of lop ear actually that these milder degrees of lop ear deformity are third-trimester
decreased from the newborn period to the age of 1 year suggests that deformational events related to high levels of circulating estrogen.
often the mildest form of this defect is in fact due more to intrauterine Since no controlled studies are available, and since there are nu-
constraint that resolves during the 1st year of life. The discrepancy in merous definitional problems regarding the spectrum of the lop/cup
these figures may also result from the recording of very mild degrees ear defect, it is difficult to conclude at this point that nonsurgical
of overfolding of the helix in the Japanese series or from true ethnic correction is the best approach for the more moderate or the severe
differences. These points, however, indicate the difficulties in defi- end of the continuum.
nition of phenotypic variations of the body, especially of the ear.
A precise etiology or pathogenesis of the lop/cup ear defect is References (Lop/Cup Ears)
not determined in most individuals who have the defect. As was 1. Rogers B: Microtic, lop, cup and protruding ears. Plast Reconstr Surg
mentioned above, the milder degrees of the lop/cup ear defect may 41:208, 1968.
truly be a deformation related to intrauterine compression. The fact 2. Tanzer RC: The constricted (cup and lop) ear. Plast Reconstr Surg
that many of the cases in Japan of the so-called lop/cup ear defect 55:406, 1975.
resolved supports this notion, as does the recent success in tape 3. Melnick M, Myrianthopoulos NC: External ear malformations: epide-
attachment and other nonsurgical approaches to these defects.4,5 miology, genetics, and natural history. Birth Defects Orig Artic Ser XV(9):
Nonsyndromic lop/cup ear defects have been seen as an autosomal 1, 1979.
4. Matsuo K, Hayashi R, Kiyono M, et al.: Nonsurgical correction of
dominant trait in a number of families; however, the proportion of
congenital auricular deformities. Clin Plast Surg 17:383, 1990.
cases due to an autosomal dominant gene is unknown.
5. Brown FE, Colen LB, Addante RR, et al.: Correction of congenital auricular
Smith and Takashima6 and Zerin et al7 have suggested that deformities by splinting in the neonatal period. Pediatrics 78:406, 1986.
the lop/cup ear defects as well as the protruding ear may be due to 6. Smith DW, Takashima H: Ear muscles and ear form. Birth Defects
alterations of plical folding of the cartilaginous ear plate that are, in Orig Artic Ser XVI(4):299,1980.
fact, secondary to changes in the extrinsic and intrinsic ear muscles. 7. Zerin M, Van Allen MI, Smith DW: Intrinsic auricular muscles and
These investigators suggest that the ear muscles and perhaps the auricular form. Pediatrics 69:91, 1982.
nerve that innervates the muscles are crucial in determining the form 8. Chiu DT, Crikelair GF, Moss ML: Epigenetic regulation of the shape and
and position of the cartilage of the ear. Their dissections of fetuses position of the auricle in the rat. Plast Reconstr Surg 63:411, 1979.
with anencephaly, who often have the lop/cup defects, along with 9. Graham JM: Smith’s Recognizable Patterns of Human Deformation,
ed 2. WB Saunders Company, Philadelphia, 1988.
experimental evidence in rodents and rabbits suggest that the in-
10. Elsahy NI: Technique for correction of lop/cup ear. Plast Reconstr Surg
trinsic auricular muscles are important for the complicated relief of
85:615, 1990.
the external ear. Experimental evidence also shows the importance of 11. Park C: Modification of two-flap method and framework construction
neuromuscular factors in external ear development. Chiu et al.,8 for reconstruction of atypical congenital auricular deformities. Plast
working with the auricle of the rat, produced changes in auricular Reconstr Surg 99:1846, 1997.
form following neurectomy of the auricular nerve. Based on this 12. Ullmann Y, Blazer S, Ramon Y, et al.: Early nonsurgical correction of
work, Smith and Takashima6 suggested that the protruding ear re- congenital auricular deformities. Plast Reconstr Surg 109:907, 2002.
sults from an alteration of the posterior auricular muscle, while the
lop ear results from an alteration of the superior auricular muscle.
10.12
Prognosis, Prevention, and Treatment Protruding Ear
The major impact of the lop/cup ear defect is visual, a potential
stigma for the individual who exhibits the defect. The natural Definition
history of the deformations producing a lop/cup ear appearance is Protruding ear is a laterally prominent auricle with the usually
for spontaneous resolution, as was emphasized by Graham9 and in normally sized ear standing out from the head at an angle of
the Japanese series.4 The challenge is that it is not always easy to greater than 408. Protruding ear is often considered a variation of
determine which of the defects will resolve and which will persist. the lop/cup ear defect.
Tanzer2 has summarized the surgical approach to the lop/cup ear
defect. In this abnormality, not only does the protruding ear need Diagnosis
repair, but also restoration of the normally shaped helix scapha This defect is easily recognized by measuring the angle of the
and anthelix is necessary. More severe cases may require multi- posterior aspect of the pinna and the mastoid occipital plane.
stage reconstruction. More recently, Elsahy10 and Park11 have Farkas has developed standards for this angle of protrusion, and in
published their modifications of the surgical approach to lop/cup school-aged children, both male and female, the angle is less than
ears that resulted in good outcomes. 408. In the protruding ear, the distance from the outer rim of the
In the 1980s, the Japanese introduced the concept of non- helix to the mastoid is greater than 2 cm (Fig. 10-11).
surgical correction of congenital ear defects, including the lop/cup The prominent ear involves some alteration of plica whereby
ear defect.4 The abnormal folding is corrected by splinting with the angle between the scapha cartilage and the concha cartilage is
dental compound using Aluwax. Surgical tapes are also used when changed. Usually this relationship is about 908, but in the promi-
appropriate. Utilizing this approach, investigators have emphasized nent ear the angle between these cartilages increases to 1308. The
that early correction is critical for outcome. Results are less successful anthelix is often flattened, and the protruding ear is usually normal
after age 6 weeks, when ear elasticity and form have become better in size but occasionally is larger. It usually appears larger than it is
 Ear 347

Fig. 10-11. Protruding ear. Normal-sized ear, which stands out from the head at an angle of 408 or more.
(Courtesy of Dr. Charles I. Scott, Jr., A.I. duPont Institute, Wilmington, DE.)

because of its lateral prominence. As was mentioned in Section unraveled in the so-called shell or unraveled ear. As has always been
10.11, the lop/cup ear defect often involves a lateral prominence, the case in the literature, the definitions of the variations of the
and Rogers2 has suggested that the protruding ear is simply the external ear are not established, and terminology is often mis-
severe end of this continuum. Occasionally, the helical fold is leading, confusing, and pejorative.

Table 10-9. Syndromes/disorders in which protruding auricle occurs as a feature

Causation
Syndrome Prominent Features Gene/Locus

Aarskog Hypertelorism, shawl scrotum, short stature XLR (305400)

FGD1, Xp11
Myotonic dystrophy Long face, myotonia AD (160900)
DMPK, 19q32
Congenital hypotonia phenotype Hypotonia, ± joint contractures, long face, Heterogenous
narrow palate, small jaw
Anencephaly As noted Multifactorial
(206500)
Prenatal alcohol Prenatal and postnatal growth deficiency, Excessive alcohol in utero
distinctive face, developmental delay
Cohen Distinctive face/teeth, long thin fingers AR (216550)
COH1, 8q22
Tricho-rhino-phalangeal Sparse hair, prominent nose, brachydactyly, short stature AD (190350)
TRPS1, 8q
Noonan Distinctive face, webbed neck, pectus excavatum, AD (163950)
pulmonic stenosis PTPN11, 12q
Coffin-Lowry Coarse face, tapered fingers, pectus carinatum XL (303600)
RSK2, Xp22
Mandibular-facial dysostosis, Mandibular hypoplasia, distinctive face X-linked
Toriello type
Kabuki Distinctive face, long palpebral fissures, mental Unknown (147920)
retardation, short stature
Trisomy 21 Distinctive face, brachydactyly, mental retardation Chromosomal
Trisomy 18 Prenatal growth deficiency, distinctive face/hands, short Chromosomal
sternum, congenital heart defects
Del 4p Distinctive face, mental retardation, growth deficiency Chromosomal
45, X Short stature, distinctive face, webbed neck Chromosomal
348 Craniofacial Structures

Most individuals with a protruding ear have it as an isolated Apparently, this approach has also been effective when utilized as
anomaly and not as part of a syndrome. Smith and Takashima3 late as age 6 months; however, the later that the strategy is initiated,
have suggested the laterally prominent ear, like the lop/cup ear, is the longer the period for which taping will be necessary.
a sign of alteration of neuromuscular function. Table 10-9 lists a
number of syndromes that include a laterally prominent ear. References (Protruding Ear)
1. Farkas LG: Anthropometry of the Head and Face. Raven Press, New
Etiology and Distribution York, 1994.
The birth prevalence of the protruding ear is not available. Most 2. Rogers B: Microtic, lop, cup and protruding ears. Plast Reconstr Surg
epidemiologic studies examining the frequency of external ear 41:208, 1968.
3. Smith DW, Takashima H: Protruding auricle: a neuromuscular sign.
defects have not included this finding, due to the fact that the
Lancet 1:747, 1978.
laterally prominent ear usually becomes more obvious with age. In
4. Matsuo K, Hayashi R, Kiyono M, et al.: Nonsurgical correction of
a Japanese study, protruding ear was recognized to be an acquired congenital auricular deformities. Clin Plast Surg 17:383, 1990.
defect, and the frequency in the newborn period was less than 1% 5. Elliott RA: Otoplasty: a combined approach. Clin Plast Surg 17:373, 1990.
while it was 5.5% by age 1 year.4 Farkas has also documented the 6. Brenda E, Marques A, Pereira MD, et al.: Otoplasty and its origins for
age effect of this ear variation.1 the correction of prominent ears. J Craniomaxillofac Surg 23:99, 1995.
7. Brown FE, Colen LB, Addante RR, et al.: Correction of congenital auricular
Prognosis, Prevention, and Treatment deformities by splinting in the neonatal period. Pediatrics 78:406, 1986.
As in the lop/cup ear defect, the social stigma of the protruding ear
is its major impact. Otoplasty is the standard surgical technique,
10.13
and a number of strategies to approach the problem have been
Stahl Ear
developed during this century. The basic approach in surgery for
protruding ears is to create a prominent anthelix. Various tech-
niques involve the creation of the desired anthelical fold.5 Recently, Definition
Brenda et al. presented their approach.6 As in the lop/cup defect, Stahl ear is an abnormal and distinctive extra fold or crus of the
a nonsurgical approach to the correction of this anomaly has also anthelix that extends from the superior portion of the anthelix to
emerged. The basic principle involves the application of surgical the upper posterior aspect of the corner of the helix. This extra
tape to the posterior helical rim, affixing it to the temporal region; fold produces a ‘‘crumpled’’ ear appearance.
a headband is often used for reinforcement. A headband alone has
also been utilized to correct the prominent ear. Brown et al.7 have Diagnosis
placed dental compound in the sulcus between the ear and the scalp The diagnosis of the Stahl ear is made simply through an inspection
to bring about normal anthelical folding. As with the standard on physical examination. This ear variation is obvious to anyone
technique, the ear is held in position with surgical tape. These who has seen the finding (Fig. 10-12). In the literature on the
nonsurgical approaches are used primarily in the newborn period. congenital contractural arachnodactyly syndrome, the disorder is

Fig. 10-12. Left: Stahl ear showing a fold extending from the superior portion of the anthelix to the upper
posterior corner of the helix. Stahl ear is also called crumpled ear. Right: configuration of the ear after
splinting with an Aluwax mold for 1 month. (From Brown et al.4)
 Ear 349

referred to as a ‘‘crumpled ear.’’1 It has also been labeled as the crus

antihelicis tertium.2 Apart from its presence in the congenital
contractural arachnodactyly syndrome, it is usually an isolated
finding and not part of a syndrome.

Etiology and Distribution

The Stahl ear was the second most common auricular defect in the
Japanese series,3 occurring in 8% of all Japanese newborns, but the
finding decreases over time, with a frequency by age 12 months of
only 1.3%. It probably represents abnormal plica folding and is
another example, like the lop/cup ear defect, of an alteration in
intrinsic auricular muscles with secondary effects on ear form. The
frequency of Stahl ear is unknown except in the Japanese series.

Prognosis, Prevention, and Treatment

The Stahl ear, as with the lop/cup ear, has been of interest to the
Japanese investigating the nonsurgical correction of congenital
auricular defects. Matsuo et al.3 claim success in most individuals Fig. 10-13. Mozart ear.
with the Stahl ear when Aluwax and surgical tape are applied in the
first few days of life. The abnormal fold is pressed out, and the
normal concavite scapha helix is molded. If nonsurgical correction
is initiated in the early neonatal period, only 1 week is necessary to but it appears likely that his son, Franz, did. The salient features of
change the auricle to its normal shape; the wax is retained for a few the defect include a broad-appearing auricle with a prominent ant-
weeks to guarantee that the corrected shape remains permanently. helix such that the two crura of the anthelix are fused and are united
Brown and colleagues4 also claim success in the treatment of a Stahl with the crus of the helix. The concha then is enlarged, and the
ear using this dental compound and tape. Since in many of the antitragus is missing or underdeveloped. The ear lobe is under-
Japanese infants with Stahl ear the defect resolved by itself in the 1st developed or very small. Sometimes the helical fold appears un-
year of life, the exact efficacy of this therapy is unclear. Certainly the raveled, altering the relief of the external auricle. Although there is no
experiences of Matsuo et al.3 and Brown et al.4 suggest success, but direct evidence that Mozart himself had the anomaly, the term has
it is possible that many of these defects would have resolved taken on such a meaning in the medical literature that it is probably
without the wax and tape. As in the lop/cup ear defect, early in- appropriate to retain the eponym, especially since Mozart’s son
tervention is suggested by the authors who use this nonsurgical probably did have the defect. These observations suggest that this ear
approach. For individuals who are recognized in later life to have abnormality is an autosomal dominant trait.
Stahl ears, reconstructive surgery is available. The impact of this Paton and colleagues2 found 13 examples of the Mozart ear
variation, however, is minimal. in patients about to have reconstructive plastic surgery of the ear.
Their work and the work of Davies1 do not cite the occurrence of
References (Stahl Ear) this finding as part of a generalized syndrome. However, promi-
1. Jones KL: Smith’s Recognizable Patterns of Human Malformation, nence of the anthelix is a consistent finding in the deletion 18q
ed 5. WB Saunders Company, Philadelphia, 1997. syndrome.3,4 A review of some photographs of children with 18q-
2. Altmann F: Malformations of the auricle and the meatus. Arch suggests that their finding is also part of the continuum of the
Otolaryngol 54:115, 1951. Mozart ear. The so-called faun ear described in the trisomy 18
3. Matsuo K, Hayashi R, Kiyono M, et al.: Nonsurgical congenital syndrome also has components of the Mozart ear. This finding
auricular deformities. Clin Plast Surg 17:383, 1990.
has been noted in the CHARGE syndrome, as well.
4. Brown FE, Colen LB, Addante RR, et al.: Correct auricular deformities
by splinting in the neonatal. Pediatrics 78:406, 1986.
Etiology and Distribution
Paton and colleagues2 carried out two surveys, one involving 1185
10.14 consecutive individuals and the other involving 1092 patients in a
Mozart Ear medical clinic. They found one case in each group, or about one in
1100 adults with this defect. Although there is no evidence re-
Definition garding the pathogenesis in this finding, it may be one of the ab-
Mozart ear is a defect of the external auricle consisting of a normalities of intrinsic auricular muscle development, as in the
prominent superior anthelix caused by a fusion of the crura of the lop/cup ear defect. It is of note that the three specific syndromes in
anthelix and the crura of the helix. The anomaly is said to have which the Mozart ear has been noted, trisomy 18, deletion 18q, and
affected Wolfgang Amadeus Mozart and his son. It has also been CHARGE syndrome, all have narrowed ear canals. There may be
called the Wildermuth ear. some developmental relationship between the Mozart ear and the
development of the external ear auditory meatus. Garcia-Cruz
Diagnosis et al.4 described a boy with multiple anomalies and the Mozart ear.
This variation of the external auricle probably has no medical sig-
nificance unless it occurs as part of a syndrome. Davies1 and Paton Prognosis, Prevention, and Treatment
et al.2 have discussed the description and history of this ear defect Reconstructive plastic surgery is available for individuals with
(Fig. 10-13). It is still unclear whether Mozart had this ear anomaly, the Mozart ear. Correction of this defect through a nonsurgical
350 Craniofacial Structures

approach, that is, splinting or molding using Aluwax, may be an Reference (Darwinian Tubercle)
option in the future, although there has been no documented 1. Online Mendelian Inheritance in Man. http://www.ncbi.nlm.nih.gov.
application as yet.

References (Mozart Ear) 10.16

1. Davies PJ: Mozart’s left ear, nephropathy and death. Med J Aust Prominent Crus of the Helix
147:581, 1987.
2. Paton A, Pahor AI, Graham GR, et al.: Looking for Mozart ears. Br Med J Definition
293:1622, 1986. Prominent crus of the helix is an unusual prominence or posterior
3. Jones KL: Smith’s Recognizable Patterns of Human Malformation, ed 5.
flaring of the crus of the helix.
WB Saunders Company, Philadelphia, 1997.
4. Garcia-Cruz D, Sanchez-Corona J, Ruenes R, et al.: A syndrome with Description
mixed deafness, Mozart ear, middle and inner ear dysplasias. J Laryngol
Otol 94:773, 1980. The crus of the helix usually extends around inferiorly and pos-
teriorly just into the concha and above the auditory meatus.
Usually, this fold ends gradually as it moves above the auditory
10.15 meatus. Occasionally, there is a striking prominence of this fold, so
Darwinian Tubercle that it extends back to the anthelix. This disorder produces an
unusual-appearing ear configuration; it was described by Aase1 as a
Definition ‘‘railroad track ear’’ (Fig. 10-15). The superior aspect of the ant-
helix and this unusually prominent crus of the helix parallel each
Darwinian tubercle is a small protrusion on the helix of the auricle
other, producing a more prominent cymbal concha.
just below the margin where the superior helix curves down to the
Unusual prominence of the helix has been described in fetal al-
inferior helix, usually at the level of the superior crus of the ant-
cohol syndrome and in the Sathre-Chotzen syndrome.1,2 Jaffe3 de-
helix (Fig. 10-14).1
scribed an 11-year-old Navajo boy with an unusual flared end of the
Description prominent crus of the helix and an absent external meatus. This in-
dividual also had auricular skin tags and conductive hearing loss. Sur-
This medically insignificant phenotypic variation is easily re-
gical creation of an external meatus improved hearing significantly.
cognized by the examiner who searches for it. It is documented
The frequency of variations of the crus of the helix is unknown.
simply for historic reasons; it is not a marker for any particular
This finding is probably a variation of plica folding and perhaps
syndrome, and it is not known to be associated with middle or
alteration of intrinsic auricular muscles, producing this secondary
internal ear defects.
change in form. This particular variation has no stigmatizing impact;
The frequency of the Darwinian tubercle is approximately 1%
its only significance is as a clue to the above-mentioned syndromes.
in population studies. Females are said to show the protrusion more
often than males. The tubercle is usually present in fetal life up to References (Prominent Crus of the Helix)
about 7 weeks and then disappears. Thus, in infancy and childhood
1. Aase JM: Microtia-clinical observations. Birth Defects Orig Artic Ser
it is a persistence of a pointlike structure that usually resolves. Some
XVI(4):289, 1980.
evolutionary biologists have suggested that the tubercle of Darwin is 2. Jones KL: Smith’s Recognizable Patterns of Human Malformation, ed
at the place where other mammalian ears are pointed. 5. WB Saunders Company, Philadelphia, 1997.
Since a Darwinian tubercle has no visual or cosmetic signi- 3. Jaffe BF: Pinna anomalies associated with congenital conductive
ficance, no treatment is necessary. Prognosis is not an issue, since it hearing loss. Pediatrics 57:332, 1976.
is not a marker for other malformations.

Fig. 10-14. Darwinian tubercle (arrow), an insignificant feature of 10.17

external ear anatomy. Lobular Defects

Definition
Lobular defects are alterations of the form or contour of the
ear lobe, including bifid and notched ear lobe (Fig. 10-16), up-
lifted lobules, antitragus base tag, and thickened ear lobes.

Diagnosis
The diagnosis of any of the ear lobe variations described herein is
made with visualization on physical examination of the auricular
lobule. A notched ear lobe was recorded in one in 300 newborns in
Holmes’ unpublished data of minor anomaly prevalence in new-
borns (personal communication: Dr. Lewis Holmes). A true bifid
ear lobe, with two separate lobes, is less common, occurring in
only one in 3000 to 4000 infants. These ear lobe findings are
usually unilateral and rarely syndromic. The defects usually occur
by themselves and are not clues to a malformation syndrome. A tag
at the base of the antitragus was described as a dominant trait
by Ramirez and Cantu.1 This has also been described in the
 Ear 351

Fig. 10-15. Crumpled ear, with ‘‘railroad track’’ horizontal folding of the anthelix, in two children
with contractual arachnodactyly. Ear in B is also retroverted. (Courtesy of Dr. Charles I. Scott, Jr.,
A.I. DuPont Institute, Wilmington, DE.)

Goldberg-Pashayan syndrome of abnormal ear lobes and ulnar and pathogenesis of these variations of ear lobe development are also
polydactyly.2 Thickened ear lobes are of note in that they were unknown. An uplifted ear lobule could be secondary to intrauterine
described as an external marker associated with conductive hearing constraint and the shoulder pushing up on the ear lobe. Uplifted ear
loss and discontinuity between the incus and the stapes. This latter lobules are also seen as part of the Turner syndrome and perhaps are
finding has been described in two families and has been referred to related to the intrauterine cystic hygroma of that syndrome.
as the Escher-Hirt syndrome (see Section 10.24).3
Prognosis, Prevention, and Treatment
Etiology and Distribution The significance of these findings is primarily as a clue to syn-
The frequency of ear lobe variations has not been determined. As was dromes, and rarely are they associated with a need for reconstruc-
mentioned above, bifid and notched ear lobes were recorded in the tion, the exception being extreme alteration of the ear lobes, such as
unpublished Boston data on minor anomalies.1 The frequencies of a true bifid lobe or absence of the ear lobe. Park summarized the
thickened ear lobes or tags of the ear lobes are unknown. The etiology approach to lower auricular defects.4

References (Lobular Defects)

1. Ramirez M, Cantu JM: Two distinct autosomal dominant traits in the
Fig. 10-16. Cleft ear lobe.
pinna. Birth Defects Orig Artic Ser XVIII(3B):243, 1982.
2. Goldberg MJ, Pashayan HM: Hallux syndactyly-ulnar polydactyly ab-
normal ear lobes: a new syndrome. Birth Defects Orig Artic Ser XII(5):
255, 1976.
3. Escher F, Hirt H: Dominant hereditary conductive deafness through
lack of incus stapes junction. Acta Otolaryngol 65:25, 1966.
4. Park C: Modification of two-flap method and framework construction
for reconstruction of atypical congenital auricular deformities. Plast
Reconstr Surg 99:1846, 1997.

10.18
Auricular Tags

Definition
Auricular tags are skin-colored, fleshy appendages represented as
nodules or skin protrusions located usually just in front of the
tragus of the ear.

Diagnosis
Auricular appendages or tags are rather common, mild mal-
formations located usually just in front of the auricle near the tragus
(Fig. 10-17).1 These defects vary in size from 1 or 2 mm to several
centimeters; they can be pedunculated on a short stalk or sessile.
352 Craniofacial Structures

Fig. 10-17. Preauricular tags in otherwise normal infant (A) and in infant with hemifacial microsomia (B).
Postauricular tag in 32-week fetus with tracheoesophageal and genitourinary anomalies (C, D). Skin tag is
covered with hair (ST) and is distinctly separate from microtic ear (RE). (Courtesy of Dr. Will Blackburn and
N. Reede Cooley, Jr.)

Diagnosis is straightforward, and the disorder is usually not mis- from about one in 300 to 1.5%. The Perinatal Collaborative
taken for any other congenital anomaly. Project reported a prevalence at birth of 17 in 10,000 or about
Auricular tags follow an arc-shaped line of predilection from one in 5002, while Holmes’ study in Boston records a frequency
the temple just above the ear to the crus of the helix, then into the of just under 1% (personal communication: Dr. Lewis Holmes).
concha of the external auditory meatus, and out again just anterior Over 90% of individuals have the tag as a unilateral finding. Al-
and below the tragus. This line, according to some authors, is a line though most individuals have this mild malformation as an iso-
of junction between the first and second branchial arches. Occa- lated problem, it may occur as part of a generalized syndrome
sionally, the preauricular tags will extend down from just anterior to (Table 10-10). In the Perinatal Collaborative Study, 89 of the 91
the tragus to the angle of the mouth, that is, the oral-tragal line. This children had it as an isolated defect. In a study of 850 school
second zone corresponds to the line between the maxillary and children in Turkey, a tag was detected in 0.47%.3 In the Spanish
mandibular portions of the first branchial arch. Tags or appendages Collaborative Study, however, approximately 2% of individuals
in this latter location are more frequently combined with other with a preauricular tag had it as part of a syndrome (personal
malformations, such as microtia, and are commonly seen in the communication: Dr. Maria Luisa Martinez-Frias).
oculo-auriculo-vertebral (OAV) spectrum. Also, auricular tags lo- Kankkunen and Thiringer4 found a prevalence of five in 1000
cated on the cheek are often associated with a pit or scarlike lesion. live births, and among their 188 cases with auricular tags, 5% had
other malformations of the face and ear. Among the neonates in
Etiology and Distribution whom the tag was the only defect, 13% were found to have some
A number of the studies on the frequency of microtia/anotia have degree of sensorineural hearing impairment, usually mild to
also included this mild malformation. Prevalence figures range moderate. The authors suggest an association between isolated ear
 Ear 353

Table 10-10. Syndromes that include auricular pits and/or tags

Syndrome Prominent Features Causation

Branchi-oto-renal (pits) Brachial sinuses, ear and renal defects AD (113650)

EYA1, 8q
Oculo-auriculo-vertebral spectrum (both) Epibulbar dermoids, vertebral defects, Heterogeneous;
variable heart defects AD (164210)
AD (257700)
14q
Michels syndrome Oral face clefts, corneal opacities, growth delay AD (257920)
Oto-facio-cervical (pits) Ear pits, webbed neck, sloping shoulders AD (166780)
Moeschler (both) Thumb/radial defects AD (141400)
Townes-Brocks (tags) Anorectal defects, thumb and ear defects AD (107480)
SALL1, 16p12
Autosomal dominant microtia Microtia, atresia of external auditory canal AD (251800)
with meatal atresia (tags)
Wildervank Klippl-Feil anomaly, hearing loss, Duane anomaly X (314600)
Cat eye (both) Distinctive face, coloboma, anorectal defects Chromosomal
Del 4p (both) Distinctive face, mental retardation, Chromosomal
growth deficiency
Del 5p (both) Round face, telecanthus, ear tags Chromosomal
Dup 11q and many other chromosomal conditions Growth delay, mental retardation Chromosomal

tags and sensorineural hearing loss and recommend routine References (Auricular Tags)
hearing assessment in all children with preauricular tags. Kugelman 1. Altmann F: Malformations of the auricle and the external auditory
et al.5 recently performed renal ultrasound on 108 infants with tags meatus. Arch Otolaryngol 54:115, 1951.
(or pits) and found no increase in renal defects compared to 2. Melnick M, Myrianthopoulos NC: External ear malformations: epi-
controls. demiology, genetics, and natural history. Birth Defects Orig Artic Ser
Early anatomists suggested that the auricular appendages XV(9):1, 1979.
resulted from excessive growth of the auricular hillock in the 3. Beder LB, Kemaloglu YK, Maral I, et al.: A study on the prevalence of
developing ear, perhaps representing a form of duplication of the accessory auricle anomaly in Turkey. Int J Pediatr Otorhinolaryngol
63:25, 2002.
original six hillocks (see Section 10.6).
4. Kankkunen A, Thiringer K: Hearing impairment in connection with
Occasionally, there is enlargement of the appendages, and preauricular tags. Acta Paediatr Scand 76:143, 1987.
they may group together to form a structure that almost resembles 5. Kugelman A, Tubi A, Bader D, et al.: Pre-auricular tags and pits in the
an extra auricle. However, as was mentioned in Section 10.6, newborn: the role of renal ultrasonography. J Pediatr 141:388, 2002.
a true accessory auricle is extremely uncommon, though the
term accessory is sometimes used with regard to these mild mal-
formations. 10.19
As was mentioned in Section 10.1, auricular tags can be the Auricular Pits
mildest form of familial microtia. They are one of the more
common findings in the family studies of microtia and hemifacial
Definition
microsomia by the Chicago group. In a number of the kindreds
with autosomal dominant-appearing microtia with meatal atresia, Auricular pits are pitlike depressions, dimples, or fossae usually just
a preauricular tag is present in a person presumed to have the at the anterior margin of the ascending limb of the helix (Fig. 10-18).
autosomal dominant gene for microtia. Thus, it is thought to re- Pits are also referred to as auricular fistulas.
present the mildest form of variable expression in the dominant
trait in those families. In the majority of infants who have no Diagnosis
other obvious defect, preauricular tags are isolated, without a po- Altmann1 and Congdon et al.2 have reviewed the anatomy and
sitive family history. Kankkunen and Thiringer4 also documented potential embryogenesis of this common ear defect. The sinuses,
autosomal dominant kindreds showing isolated nonsyndromic fossae, or pits are usually depressions not more than 1 to 3 mm in
ear tags. greatest diameter. Although there are a number of uncommon
locations, in over 90% of cases reviewed by Congdon et al.,2 the pits
Prognosis and Treatment were situated at the anterior margin of the ascending limb of the
The auricular tag can be removed through an incision around the helix (Fig. 10-18). While most are rather shallow, some can be as
base. The tag often contains a delicate rod of elastic cartilage, which deep as 15 mm. A small pigmented mole is sometimes seen near the
can extend deeply. Care must be taken not to damage any fibers of opening of the dimple.
the facial nerve that may be running beneath the tag. Removal The second most common location is the preauricular region.
should be made by a reconstructive surgeon or otolaryngologist One of the characteristics of the preauricular pit is that it is
who has experience with this malformation. sometimes associated with auricular appendages or even with what
354 Craniofacial Structures

Fig. 10-18. Preauricular pit (top arrow) associated with retroverted pinna and branchial fistula (bottom
arrow) in adult with branchio-oto syndrome (A). Preauricular pits and tag in a 7-month-old infant (B).
Preauricular pit and microtia in a 13-month-old infant with Treacher Collins syndrome (C). (Courtesy of
Dr. Charles I. Scott, Jr., A.I. duPont Institute, Wilmington, DE.)

appears to be a congenital scar. The preauricular pits are located in predilection. These literature studies have been reviewed by Mel-
the area from the tragus to the corner of the mouth, the area nick and Myrianthopoulos3 and usually indicate that the birth
between the maxillary and mandibular portions of the first bran- prevalence is about 1%, with higher frequencies among black and
chial arch. Other locations include the posterior helicine region Asiatic children. The frequency in the Perinatal Collaborative Study
(along the rim of the outer helix), the helicolobular region, and was just under 1%, with the frequency among blacks being higher
within the center aspect of the lobule. An even rarer type is the than that among whites. As was mentioned above, the majority of
postauricular pit, which occurs just behind the attachment of the pits are unilateral. Auricular pits of the ascending limb of the helix
auricle to the temporal region. Altmann1 reviewed the concept of a have been described as an autosomal dominant trait. Zou recently
‘‘line of predilection’’ and suggested that pits may very well be found linkage to 8q11 for ear pits as a trait in a Chinese family.4
remnants of the closure of the mandibular and hyoid arch or the Some thoughts on pathogenesis were discussed above. Be-
mandibular and maxillary portions of the first branchial arch. cause of the line of predilection of these depressions, it is tempting
Congdon et al.2 have also emphasized that the location of these pits to postulate that they represent remnants of closure of the auric-
seems to be near where the hillocks of His formed. The idea here is ular hillocks or the closure of the first and second branchial ar-
that the sinuses may be derived from grooves that are remnants of ches. Preauricular pits on the oral-tragal line are probably a
the closure of these auricular tubercles. They may be elements of a
defective closure of the helix or of the branchial clefts.
Most auricular pits are isolated defects and are not part of a Fig. 10-19. Pits on posterior ear lobe in Beckwith-Wiedemann
broader pattern of anomalies. In the Perinatal Collaborative Study, syndrome. (Courtesy of Dr. H. Eugene Hoyme, Stanford University
fewer than 10% of individuals had the pit associated with other School of Medicine, Stanford, CA.)
malformations.3 On the other hand, in the Spanish Collaborative
Project, approximately 30% of infants had an associated defect, but
only 1% had a recognizable syndrome (personal communication:
Dr. Maria Luisa Martinez-Frias). The high frequency of associated
malformations in the Spanish study may be due to the close ex-
amination of all the babies, including the recording of minor
anomalies. Approximately 20% of these pits are bilateral. Nu-
merous syndromes have been described along with which auricular
pits are described (Fig. 10-18). The most important and common
of these is the branchial-oto-renal syndrome (see Table 10-10). Pits
located on the posterior rim of the helix are characteristic of the
Beckwith-Wiedemann syndrome (Fig. 10-19). The preauricular
pits seen in the oculo-auriculo-vertebral spectrum are part of what
was referred to above as congenital scars and also may relate to the
development of accessory appendages.

Etiology and Distribution

A number of epidemiologic studies have recorded the frequency of
auricular pits and depressions. There does seem to be some racial
 Ear 355

different alteration of morphogenesis and most likely are part of

the continuum of accessory appendages.

Prognosis, Prevention, and Treatment

Except for the rare occurrence of secondary infection, medical
complications with these findings are uncommon. Reconstructive
surgery is an option for preauricular pits. Mandell summarized
the surgical issues recently.5

References (Auricular Pits)

1. Altmann F: Malformations of the auricle and the external auditory
meatus. Arch Otolaryngol 54:115, 1951.
2. Congdon ED, Rowhanavongse S, Varamisara P: Human congenital
auricular and juxtaauricular fossae, sinuses and scars (including the so-
called aural and auricular fistulae) and the bearing of their anatomy upon
the theories of their genesis. Am J Anat 51:439, 1932.
3. Melnick M, Myrianthopoulos NC: External ear malformations: epide-
miology, genetics, and natural history. Birth Defects Orig Artic Ser
XV(9):1, 1979.
4. Zou F, Perry Y, et al.: A locus of preauricular fistula arrays to chromosome
8q11. J Hum Genet 48:155, 2003.
5. Mandell DL: Head and neck anomalies related to the branchial apparatus.
Otolaryngol Clin N Am 33:1309, 2000.

10.20
Ear Lobe Creases/Pits

Definition
Ear lobe creases/pits are transverse linear fissures (creases) or pits
in the lobule of the ear.

Diagnosis
This alteration of the lobule involves a distinctive linear fissure or
crease easily recognized on physical examination (Fig. 10-20). The
prenatal onset of congenital ear fissures is most important because
of their usefulness in the diagnosis of the Beckwith-Wiedemann
syndrome. These ear lobe creases are sometimes called Kerbenohr
fissures. They are to be distinguished from the diagonal ear lobe
crease that occurs in middle-aged and older adults and that was
once thought to be a marker or sign of coronary artery disease. This
latter marker will not be reviewed here because it is not a congenital
defect, but this topic has been summarized by Jorde et al.
Well-defined depressions in the earlobe that resemble pits have
been described as an autosomal dominant trait.2 These depressions
usually are 3 to 5 cm in diameter and approximately 1 mm in depth.
They are sometimes referred to ‘‘natural earring holes.’’ This con-
dition is inherited as an autosomal dominant trait, with variable
expressivity and incomplete penetrance. The trait can be both bi- Fig. 10-20. Crease on ear lobe associated with macrosomia and
lateral and unilateral within families. macroglossia (Beckwith-Wiedemann syndrome).

Etiology and Distribution

The frequency of ear lobe pits or so-called natural earring holes is
The frequencies of ear lobe fissures/creases and ear lobe holes/pits unknown.
are unknown. Ear lobe pits, an autosomal dominant trait, are The major significance of these findings is as a clue to the
certainly distinct from autosomal dominant auricular pits, and Beckwith-Wiedemann syndrome. There is no intrinsic medical sig-
the two findings are probably mutually exclusive even though they nificance other than as a diagnostic marker.
are sometimes discussed together in the otology literature. The
frequency of ear lobe creases in the unpublished data from References (Ear Lobe Creases/Pits)
the Boston Minor Anomaly Study is just under 1% for the uni- 1. Jorde LB, Williams RR, Hunt SC, et al.: Lack of association of diagonal
lateral finding and approximately one in 300 for the bilateral earlobe crease with other cardiovascular risk factors. West J Med 140:220,
finding (personal communication: Dr. Lewis Holmes). The deep 1984.
transverse creases usually seen in Beckwith-Wiedemann syndrome 2. Ramirez M, Cantu JM: Two distinct autosomal dominant traits in the
are uncommon as a congenital finding except in that disorder. pinna. Birth Defects Orig Artic Ser XVIII(3B):243, 1982.
356 Craniofacial Structures

constraint from the longstanding lack of amniotic fluid. It is of note

that this particular finding is the primary basis for the so-called
ear-kidney association. This alleged association was in fact based
on a deformation of the external ear secondary to the oligohy-
dramnios, which was secondary to the intrauterine renal failure, as
opposed to an alteration in mesenchymal or cell differentiation (see
Section 10.9).

Etiology and Distribution

The exact frequency of deformations of the external ear is un-
known. It has been estimated that approximately 2% of liveborn
babies will have an extrinsic deformation of late fetal origin. Ear
deformations, then, probably occur in a frequency less than that
2% figure. These ear abnormalities can mimic the alterations of
intrinsic plical folding, that is, lop/cup ear defect and Stahl ear,
but in ear deformations the variation should improve postnatally.
Aase2 proposed that prolonged constraint of the external ear ac-
tually results in overgrowth, which may be the pathogenetic basis
of the ear in the oligohydramnios sequence.
Fig. 10-21. Deformation of the ear. Flattening and crumpling of
the ear secondary to intrauterine pressure associated with oligohy-
dramnios. Note the relatively large size of the ear and the interrupted Prognosis, Prevention, and Treatment
helical fold. (Courtesy of Dr. Will Blackburn and N. Reede Cooley, Jr.) The natural history of many external ear deformations is postnatal
improvement. This applies especially to external ear changes oc-
curring very late in gestation. Perhaps many of the variations of the
external ear prevalent among the Japanese (38% for the lop ear and
10.21
8% for the Stahl ear) are in fact deformations that mimic altera-
Deformation of the Auricle
tions of morphogenesis. This may be the reason why many of the
external ear defects in the Japanese series improve with time.3 For
Definition example, while 38% of infants had a lop ear at birth, only 6%
Deformation of the auricle is an alteration of the form of the showed this disorder at age 1 year. Ear deformations that involve
external auricle due to unusual mechanical forces on the ear. overfolding lend themselves to the nonsurgical approaches using
Aluwax and tape. However, many infants who have reversible ear
Diagnosis deformations may be exposed to this taping unnecessarily in that
The diagnosis of a deformation of the external ear is made by noting the deformation would have improved on its own. Matsuo et al.3
an alteration of the form of the auricle in the context of a bona fide elect to treat all children, since it is not possible to separate those
history of constraint or intrauterine mechanical forces. The external deformations that will resolve from those that will not resolve. Even
auricle that is deformed by constraint phenomena in utero can in the individual who has a well-documented reason for in-
resemble the lop/cup ear defect or can be large and posteriorly trauterine constraint, that is, late oligohydramnios due to leakage
rotated (Fig. 10-21). or bicornuate uterus, the outcome is not predictable.
Graham1 has documented a number of examples of alterations
of the external ear. Ear variations such as flattening of the ear References (Deformation of the Auricle)
against the head, overfolding of the helix, and asymmetric growth
1. Graham JM: Smith’s Recognizable Patterns of Human Deformation,
of the ear should all be considered potential clues to suggest a
ed 2. WB Saunders Company, Philadelphia, 1988.
deformational process. Prolonged oligohydramnios, breech pre- 2. Aase JM: Structural defects as a consequence of late intrauterine
sentation, and uterine malformations are examples of intrauterine constraint, craniotabs, loose skin and asymmetric ear size. Semin Perinatol
phenomena associated with ear deformations. The ear alterations 7:270, 1983.
in the Potter syndrome, now recognized as the oligohydramnios 3. Matsuo K, Hayashi R, Kiyono M, et al.: Nonsurgical correction of
sequence, are in fact deformations of the external ear due to the congenital auricular deformities. Clin Plast Surg 17:383, 1990.

Middle Ear
John C. Carey and Albert H. Park

Congenital malformations of the middle ear ossicular chain include a Interest in these malformations has paralleled developments in
wide array of osseous defects of the malleus, incus, and stapes. In this the reconstructive surgery of acquired lesions of the middle ear and
introduction, these defects will be discussed in general. Individual en- progress in high-resolution computerized tomography (CT)
tries for specific middle ear defects and their management will follow. scanning. Most of the detailed descriptions of the various defects
 Ear 357

have been written in the last 4 decades. Because of the many defects meatal atresia. Since the overwhelming number of individuals
that have been described in all three middle ear bones, one has the with middle ear malformations are ones who also have external ear
impression that there is no pattern to the malformations and that malformations, this particular classification is useful to the otologist
almost any defect can occur in a disorder that involves the middle and radiologist. Teunissen and Cremers6 also proposed a classifi-
ear. This notion is not entirely correct, and a few classifications have cation of middle ear malformations based on a series of 144 op-
emerged that are helpful to the clinician. In individuals who have erations. Their classification has four classes: (1) stapes ankylosis;
external ear defects, the issue of the potential for a middle ear (2) stapes ankylosis with ossicular anomaly; (3) ossicular anomaly
malformation is always considered. On the other hand, cases in- with mobile footplate or discontinuity; and (4) aplasia of the round
volving isolated middle ear defects without an external ear mal- or oval window.
formation are often not diagnosed or are misdiagnosed as acquired In a review on the assessment of individuals with middle ear
conditions, especially disorders that are unilateral. malformations, Bergstrom7 reported a series of 687 children having
Funasaka et al.1 have classified ossicular malformations without congenital hearing loss. Seventeen percent had defects of the con-
defects of the external ear into three groups: (1) fixations of the ducting mechanism. Only eight of these 117 children had isolated
malleus and/or incus, malleoincudal fixations; (2) incudostapedial middle ear defects without external ear defects or other malfor-
disconnection; and (3) stapes fixation. While one case can involve all mations. Thus, in this series individuals with nonsyndromic, iso-
three of these classes of defects, as in Treacher Collins syndrome, most lated ossicular chain defects not associated with an external ear
will fall into only one. The Japanese literature abounds with cases of malformation were uncommon. Bergstrom, like others, suggests
autosomal dominant ossicular defects.2 Cases of this nonsyndromic that there are probably many individuals in this group who go
familial ossicular chain defect are rarely present in the English lan- undiagnosed. The average age at diagnosis for individuals with
guage literature. In the Japanese literature, individuals in the same congenital conductive hearing loss was 13.4 years, as opposed to
family usually have the same type of defect. Familial or autosomal 4.2 years in children with associated defects. This figure will clearly
dominantly inherited ossicular defects are usually bilateral, whereas become smaller in the future because of universal newborn screen-
typical ossicular malformations are usually unilateral. ing in many areas of the United States and Europe.
Incudostapedial disconnection and/or defects of the incus, Nadol8 has separated individuals with middle ear defects into
either hypoplasia or absence of the long process, appear to be the three classes of syndromes: those with progressive hearing loss,
most common ossicular chain defect in an individual without ex- including bone dysplasias and connective tissue dysplasias; those
ternal ear defects. Congenital fixation of the stapes is probably the with nonprogressive hearing loss, including dysostoses, localized
most well-known of the three classes of defects, and, because of the ear defects, and chromosome disorders; and those in which pro-
dual origin of this important bone, interest in this defect has been gression of hearing loss is unknown. Nadol8 and Bergstrom7 have
high. Stapes ankylosis represents the second most common defect. compiled the many syndromes associated with ossicular chain
Fixation of the malleus to either the wall of the tympanic cavity or defects (see also Table 10-11). As mentioned above, an ascertain-
the incus is commonly seen in meatal atresia. ment bias probably accounts for the fact that the overwhelming
The child with a nonsyndromic ossicular malformation pre- number of individuals in the otology literature have ossicular chain
sents with a nonprogressive conductive hearing loss that is present defects as part of a more generalized disorder either of the external
at birth but usually not recognized until later in childhood. The and inner ear or as part of an otofacial syndrome.
decibel loss is usually in the 40 to 60 range, and the differential Nadol’s8 classification of disorders that have progressive hear-
diagnosis usually includes acquired hearing loss due to infection ing loss and defects of the middle ear chain includes skeletal dys-
and trauma. Audiologic testing, including the tympanogram, will plasias in which there is postnatal onset of hearing loss. The majority
often provide diagnostic clues. The air conduction curve tends to of these conditions fall into the craniotubular dysplasias, including
be flat through the midfrequencies while the bone conduction is craniometaphyseal dysplasia and frontometaphyseal dysplasia. Au-
normal. Impedance audiometry shows changes in the contour of tosomal recessive osteopetrosis is the best example of a congenital-
the tympanogram curve, depending on whether there is a defect of onset progressive disorder of conductive hearing loss involving the
discontinuity or fixation. However, the tympanogram is not di- ossicular chain. This is an intrinsic metabolic disorder of bone.
agnostic, and further evaluation would be necessary to make a Otosclerosis is the prototypic condition of a postnatal onset disorder
diagnosis. Occasionally, defects of the malleus, especially absence of the middle ear bones, while osteogenesis imperfecta is a common
or interruption of the short handle, may be detected on otoscopic example of a syndrome in this grouping.
examination. High-resolution CT scanning will allow delineation Most of the disorders that fall into the category of nonpro-
of a number of ossicular chain defects. Swartz et al.3 and more gressive hearing loss are congenital malformation syndromes that are
recently Siegert et al.4 have reviewed the radiology of these middle in the dysostosis category. These are discussed elsewhere in con-
ear defects. junction with their individual bone defects (see Sections 10.22, 10.23,
Frey5 has also classified middle ear malformations. This cate- and 10.24). Other disorders labeled as ‘‘nonprogressive’’ are those
gorization includes four groups based on the presence and severity that Nadol8 called ‘‘regional defects.’’ These include external, middle,
of defects of the external auditory canal. Group 1, the least common or inner ear malformations; meatal atresia, the X-linked mixed
form, includes the individual with solitary malformations of the hearing loss with congenital fixation of the stapes; perilymphatic
ossicles. The remainder of Frey’s classification (groups 2–4) in- gusher; and Treacher Collins syndrome. Chromosomal disorders
cludes individuals who have middle ear malformations with asso- are also included. Nadol’s last group consisted of syndromes in
ciated external ear canal defects such as stenosis of the external canal which progression was unknown, and these included Apert, oto-
(group 2) and atresia of the external canal (group 3). Group 4 palatal-digital, and ectrodactyly-ectodermal dysplasia-clefting syn-
malformations represent the severe end of the spectrum of microtia dromes. Given that these disorders are all malformation syndromes,
and meatal atresia with middle ear ossicular chain defects. This it is likely that there is not progression.
classification basically separates individuals with middle ear ossi- An accurate prevalence of ossicular chain defects not part
cular defects from those who have the wide range of microtia with of a syndrome cannot be given. If only 7% of individuals with
358 Craniofacial Structures

congenital hearing loss have isolated, nonsyndromic ossicular de- prosthesis and the partial ossicular replacement prosthesis.13,14
fects and the incidence of congenital hearing loss is assumed to be Materials used have included titanium, high-density polyethylene
one in 1000, then the incidence could be approximated as one in sponge, and hydroxyapatite, a dense calcium phosphate ceramic.
14,000. However, this figure has to be an underestimate of the The House wire is also used in connecting the incus to the oval
nonsyndromic forms, as mentioned above. The prevalence of in- window. Because of the many advances in the last 3 decades in both
dividuals with all ossicular malformations is much higher and the diagnosis and reconstruction of ossicular chain defects, referral
would approximate the frequency of microtia with meatal atresia to an otologist experienced in this surgery is warranted when
because of the high frequency of middle ear defects in microtia. evaluating persons with malformations of the auditory conduction
While animal models exist for the study of both external and system. The following entries on the middle ear discuss the specific
inner ear defects, middle ear malformations in animals are not as defects.
well-described. Altmann9 has reviewed some of the middle ear mal-
formations seen in mammals. Jaskoll10 has conducted investigations References
of a number of potential teratogens on the development of the chick 1. Funasaka A, Abe H, Tozuka G, et al.: Anomalies of the ossicles without
middle ear. She has listed the teratogens of the middle ear that have malformaton of the external ear. Otol Fukuoka 17:250, 1971.
been reported in various animal species, including mouse, rat, 2. Higashi K, Yamakawa K, Itani O, et al.: Familial ossicular malforma-
hamster, monkey, and chick. It is of note that thalidomide induces tions: case report and review of literature. Am J Med Genet 28:655, 1987.
ossicular chain defects of the middle ear in animal models as it does 3. Swartz JD, Glazer AU, Faerber EN, et al.: Congenital middle-ear
in the human. Thalidomide is the principal human teratogen re- deafness: CT study. Radiology 159:187, 1986.
4. Siegert R, Weerda H, Mayer T, et al.: High resolution computerized
cognized to affect the middle ear. A wide range of ossicular chain
tomography of middle ear abnormalities. Laryngorhinootologie
defects have been reported in infants exposed to thalidomide during 75:187, 1996.
the critical period. Vitamin A also alters the middle ear cavity and 5. Frey K: Malformations of the middle ear. In: Fundamentals of Ear
ossicles in rodents, an important finding since the vitamin A analog, Tomography. J Jensen, H Rovsing, eds. Charles C Thomas, Springfield,
isotretinoin, is a human teratogen. Some authors have proposed that IL, 1971, p 77.
rubella can affect the middle ear as well as the inner ear, but there is 6. Teunissen EB, Cremers CWRJ: Classification of congenital middle ear
little documentation of this. Although maternal diabetes is known to anomalies: report on 144 ears. Ann Otol Rhinol Laryngol 102:606, 1993.
affect external ear development, evidence that it produces middle ear 7. Bergstrom L: Assessment and consequence of malformation of the
alterations is limited. middle ear. Birth Defects Orig Artic Ser XVI(4):217, 1980.
As mentioned above, there are a number of reports in the 8. Nadol JB: Pathoembryology of the middle ear. Birth Defects Orig Artic
Ser XVI(4):181, 1980.
Japanese literature of autosomal dominant middle ear ossicular
9. Altmann F: Congenital atresia of the ear in man and animals. Ann Otol
defects. Higashi et al.2 have reviewed a number of the families Rhinol Laryngol 64:824, 1955.
reported in the Japanese literature. Most defects remain consistent 10. Jaskoll TF: Morphogenesis and teratogenesis of the middle ear in
within a single family. There are large Japanese families with au- animals. Birth Defects Orig Artic Ser XVI(7):9, 1980.
tosomal dominant stapes fixation as well as other reports of au- 11. Online Mendelian Inheritance in Man. http://www.nchi.nlm.nih.gov.
tosomal dominant incudostapedial disconnection. Higashi et al.2 12. Spindel JH: Middle ear implantable hearing devices. Am J Audiol
also reported malleo-incal fixation as a dominant defect. Most of 11:104, 2002.
the familial cases have bilateral involvement, although there are a 13. Kartush JM: Ossicular chain reconstruction. Otolaryngol Clin N Amer
number of exceptions. The genetics of nonsyndromic ossicular 27:689, 1994.
malformations have barely been studied. The only citation in the 14. De La Cruz A: Ossiculoplasty in congenital hearing loss. Otolaryngol
Clin N Amer 27:799, 1994.
Online Mendelian Inheritance of Man of nonsyndromic middle
ear malformations (165680) refers to the above-mentioned re-
port.11 Some of the so-called familial cases of hearing loss may be
due to conductive losses in this category. Cases with middle ear 10.22
defects are often underascertained, and unilateral cases frequently Hypoplasia/Aplasia/Malformation
go undetected. With high-resolution CT scanning of the middle ear of the Malleus
and newborn screening, the genetic aspects of ossicular chain de-
fects can be better studied in the future. Malformations of the malleus include underdevelopment or ab-
The hearing loss in individuals with middle ear malformation sence of the malleus, shortening of the handle of the malleus, and
is nonprogressive, of early onset, and conductive in nature. In in- alterations of the manubrium (Fig. 10-22). Aplasia or hypoplasia
dividuals who have no auditory canal defect or cochlear dysplasia, of the malleus is recognized by the detection of congenital hearing
options for surgical reconstruction of the middle ear are available. loss due to the poor mechanical transmission from the ear drum
Educational intervention for the individual with moderate hearing to the incus. Otoscopic examination will sometimes identify this
loss is obviously appropriate. Prior to any surgical intervention and uncommon bony defect. Clues to the diagnosis can come from the
in situations in which surgery is not selected, conductive hearing pattern on the tympanogram, but the definitive recognition re-
aids are warranted. Middle ear implantable hearing devices are also quires high-resolution CT scanning or surgical exploration, often
a treatment option.12 for other reasons. This defect is associated with microtia with
Individuals with ossicular chain defects have benefited from meatal atresia, Treacher Collins syndrome, branchio-oto-renal
the many advances in surgery that were developed for otosclerosis, syndrome, and other less common disorders (Table 10-11).1,2
stapes fixation, and acquired defects of the bones secondary to As in all the ossicular chain defects, exact figures for pre-
long-standing infection. A number of prosthetic devices and valence do not exist. Hypoplasia/aplasia of the malleus represents
grafting techniques have been developed for reconstruction of the one of the less frequent of the ossicular middle ear defects.
middle ear chain.12 These are discussed in the individual entries for The goal of surgery is to establish a functional connection
specific defects. Prostheses include the total ossicular replacement from the tympanic membrane and direct it to the incus, stapes, or
 Ear 359

Fig. 10-22. Ossicular chain of the middle ear. A. Normal malleus, incus, and stapes. B. Malformed malleus
lacking handle; incus lacking long crus and short process; malleus and incus fused. C. Malleus lacking
handle; incus lacking long crus and short process; stapes absent; malleus fused to incus and to lateral wall
of attic and atresia plate.

oval window, depending on the status of the other bones.3 A partial

ossicular replacement prosthesis or a homograph can be used. A
thorough description of prostheses or homographs is provided by
Kartush.4

References (Hypoplasia/Aplasia/Malformation
of the Malleus)
1. Nadol JB: Pathoembryology of the middle ear. Birth Defects Orig Artic
Ser XVI(4):181, 1980.
2. Bergstrom L: Assessment and consequence of malformation of the
middle ear. Birth Defects Orig Artic Ser XVI(4):217, 1980.
3. Jaffe BF: Middle ear isolated anomalies. In: Hearing Loss in Children:
A Comprehensive Text. University Park Press, Baltimore, 1977, p 286.
4. Kartush JM: Ossicular chain reconstruction. Otolaryngol Clin N Amer
27:689, 1994.

Fig. 10-23. Fusion of head of malleus to the lateral wall of the attic.
10.23
Fusion Defects of the Malleus

Malleus head fixation is the most common isolated malleus epitympanic expansion. Fusion defects of the malleus either to
anomaly. The malleus may be fused to the incus, the atretic plate the epitympanum or to the incus are relatively uncommon in the
(in the case of microtia/meatal atresia), or the superior wall of the major classes of ossicular chain defects. Fusion of the malleus to
tympanic cavity (Figs. 10-22 B and C, and 10-23). In the case of a the atretic plate commonly occurs with meatal atresia. In the
patent external canal, fixation of the malleus could be diagnosed review of the Japanese literature on autosomal dominant chain
by the astute clinician who notes the movement of the tympanic defects by Higashi et al.,2 one of the families had nonsyndromic
membrane while the malleus remains immobile. Fixation of the malleus and/or incus fixation accompanied by stapes fixation.
malleus results in nonprogressive conductive hearing loss with a Fixation defects of the malleus have been described in a number of
maximum of 60 dB loss when there is total fixation. Malleus disorders (Table 10-11).
fixation is well-known to otologists in association with oto- Fixation of the malleus requires mobilization and/or use of a
sclerosis. Malleal head fixation, however, can also be a congenital prosthesis (tympanic membrane/malleus to incus). Mobilization of
defect as described here. The pathogenesis of this defect has been the malleus may be challenging even with curette or microdrill in-
discussed by Goodhill,1 who proposed a number of mechanisms, strumentation. If mobilization is unsuccessful, the incudostapedial
including excessive air cell formation in the epitympanum, bony joint is separated and the malleus head is amputated and reposi-
fixation of the anterior malleal ligament, and partial failure of the tioned between the malleus handle and stapes suprastructure. As
Table 10-11. Syndromes with middle ear malformations
Causation
Syndrome Ossicular Defect(s) Prominent Features Gene/Locus

Skeletal Dysplasias

Osteopetrosis, recessive form Abnormal bone Increased bone density, bone marrow failure AR (259700)
CLCN7, 16p13
Achondroplasia Ossicular chain fusion Disproportionate short stature, macrocephaly AD (100800)
FGFR3, 4p16
Dyschondrosteosis Hypoplasia/aplasia Forearm shortening, short stature, AD (127300)
of malleus and/or Madelung defect SHOX, Xp22
incus, stapes fixation
Diastrophic dysplasia Ossicular fusion Disproportionate short stature, AD (222600)
joint contractures SLC26A2, 5q32
Osteogenesis imperfecta Stapes ankylosis Osseous fragility, blue sclera AD (166210)
Multiple loci

Dysostoses

Cleidocranial dysostosis Incudo-malleal fusion, Clavicular defect, short stature AD (119600)

stapes fixation CBFA1, 6p21
Symphalangism-brachydactyly Stapes fixation Distinctive nose, proximal AD (186500)
symphalangism, brachydactyly NOG, 17q22
Teunissen Stapes fixation, Brachydactyly, brachytelephalangism, AD (184460)
incus hypoplasia broad thumbs NOG, 17q22
Dominant symphalangism- Stapes fixation Symphalangism, anomalies AD (185750)
conductive hearing loss of hands and feet
Forney Stapes fixation Joint fusion, mitral insufficiency AD (157800)
Cleft palate-oligodontia Stapes fixation Cleft palate, oligodontia AR (216300)

Otofacial Syndromes

X-linked hearing loss Stapes fixation Mixed hearing loss, XLR (304400)
perilymphatic gusher at surgery POU3F4, Xq21
Escher-Hirt Abnormal incudo-stapedial joint Thickened ear lobules, AD (128980)
middle ear malformation
LMC Stapes fixation Lop ears, micrognathia Unknown
Branchio-oto-renal Stapes fixation, Branchial fistulas, AD (113650)
incus hypoplasia/aplasia, ear abnormalities, mixed EYA1, 8q
malleus hypoplasia/aplasia, hearing loss, renal defects
absence of the oval window
Treacher Collins Hypoplasia and fusion of Mandibular hypoplasia, AD (154500)
malleus and incus, absence malar hypoplasia, TCOF1, 5q32
of stapes and oval Robin sequence, microtia
window, stapes fixation
Oculo-auriculo- Fusion of the incus and malleus, Epibulbar dermoids, Heterogeneous;
vertebral spectrum hypoplasia/aplasia of the ossicles hemifacial microsomia, AD (164210)
vertebral defects AD (257700)
14q
Wildervanck Abnormal ossicles, oval window Duanne anomaly, Klippel-Feil syndrome, Unknown,
mixed hearing loss, ear defects XLR (314600)
Sellars Hypoplasia of incus, Microtia AD (124690)
stapes fixation
Kabuki Multiple ossicular chain defects Distinctive face, cleft palate, short stature AD (147920)
Apert Various ossicular chain defects Craniosynostosis, hypertelorism, syndactyly AD (101200)
FGFR2, 10q26
Crouzon Various ossicular chain defects Craniosynostosis, hypertelorism AD (123350)
FGFR2, 10q26
(continued)

360
 Ear 361

Table 10-11. Syndromes with middle ear malformations (continued)

Causation
Syndrome Ossicular Defect(s) Prominent Features Gene/Locus

Chromosomal Syndromes

Trisomy 18 Wide range of ossicular defects Neonatal growth deficiency,

distinctive face/hands,
short sternum, congenital heart disease
Trisomy 13 Stapes aplasia/hypoplasia, Cleft lip/palate, scalp defects,
many ossicular defects polydactyly, eye defects
45,X Stapes fixation, Short stature, webbed neck,
stapes hypoplasia/aplasia distinctive facies, gonadal dysgenesis
del 22q Fused and malformed ossicles Distinctive face, velopharyngeal insufficiency,
heart defects
del 18q Fused and malformed ossicles Distinctive face, meatal stenosis or atresia,
midfacial hypoplasia, tapered fingers,
variable developmental retardation

mentioned above, numerous prostheses are available to reestablish common middle ear defects seen in one series.1 A variation of this
ossicular continuity. defect was seen by Higashi et al.2 In this family there was unilateral
hypoplasia of the long process of the incus producing a conductive
References (Fusion Defects of the Malleus) hearing loss. Higashi et al.2 also reviewed three other families with
1. Goodhill V: The fixed malleus syndrome: surgical and audiological apparent autosomal dominant inheritance of an incudostapedial
consideration. Trans Acad Ophthalmol Otolaryngol 70:370, 1966. disconnection.
2. Higashi K, Yamakawa K, Itani O, et al.: Familial ossicular malforma- This particular continuum of defects has been seen in a number
tions: case report and review of literature. Am J Med Genet 28:655, 1987. of syndromes, for example, the common disorders of Treacher Collins
syndrome, microtia with meatal atresia, trisomy 18, trisomy 13, and
Wildervanck syndrome (Table 10-11).3 In addition to these broader
10.24
patterns of malformation, reports by Escher and Hirt4 and by Wil-
Hypoplasia/Aplasia/Malformation of the Incus
mont5 delineated an autosomal dominant condition consisting of
conductive hearing loss due to an abnormal incudostapedial joint and
Malformations of the incus include underdevelopment or absence thickening of the external ear lobes. Teunissen and Cremers6 reported
of the incus and abnormalities of the lenticular process and long an uncommon condition of brachydactyly, brachytelephalangy, stapes
process (Figs. 10-22B and C, and 10-24). As in defects of the fixation, and hypoplasia of the incus, now known to be caused by
malleus, underdevelopment or absence of the incus is diagnosed by mutations of the NOGGIN gene.
the nonprogressive, conductive hearing loss and by high-resolution The ossicular discontinuity due to abnormalities of the incus
CT scanning. Defects can be discovered during reconstruction for can be repaired by a partial ossicular replacement prosthesis.
the problem or for other defects of the middle ear. The range of
defects includes absence of the lenticular process, absence of the
long process with persistence of the lenticular process and body, References (Hypoplasia/Aplasia/Malformation
absence of the short process and body, and total absence of the of the Incus)
incus (Fig. 10-24). This range comprises the class of malformations 1. Swartz JD, Glazer AU, Faerber EN, et al.: Congenital middle-ear deafness:
called incudostapedial disconnection, which represents the most CT study. Radiology 159:187, 1986.

Fig. 10-24. A. Agenesis of incus except for lenticular process; agenesis of a part of anterior crus.
B. Malformed incus with only long crus present; stapes solid. C. Agenesis of long crus of incus and
the crural arch of the stapes. D. Agenesis of the long crus of the incus. E. Agenesis of short process
of the incus, the stapes, and stapedius muscle.
362 Craniofacial Structures

2. Higashi K, Yamakawa K, Itani O, et al.: Familial ossicular malforma- 5. De La Cruz A, Doyle KJ: Ossiculoplasty in congenital hearing loss.
tions: case report and review of literature. Am J Med Genet 28:655, 1987. Otolaryngol Clin N Am 27:799, 1994.
3. Nadol JB: Pathoembryology of the middle ear. Birth Defects Orig Artic
Ser XVI(4):181, 1980.
4. Escher F, Hirt H: Dominant hereditary conductive deafness through
10.26
lack of incus stapes junction. Acta Otolaryngol 65:25, 1966.
5. Wilmont TJ: Hereditary conductive deafness due to incus-stapes
Hypoplasia/Aplasia/Malformation
abnormalities and associated pinna deformity. J Laryngol 84:469, 1970. of the Stapes
6. Teunissen B, Cremers CWRJ: An autosomal dominant inherited
syndrome with congenital stapes ankylosis. Laryngoscope 100:380, 1990. Malformations include underdevelopment or absence of the
stapes and a wide range of structural alterations of this middle ear
10.25 ossicle (Figs. 10-22 C, 10-24 A, C, and E, and 10-25). Hypoplasia
Fusion Defects of the Incus or aplasia of the stapes are diagnosed using high-resolution
computerized tomography. A variety of structural alterations of
the shape of the stapes have been described. These include the
The incus may be fused to the malleus, to a portion of the epi- unicrurate defect, incomplete development of the crura without
tympanum and middle ear fossa (Figs. 10-24 B and C), or to the attachment to the footplate, entire absence of the superstructure
stapes. Making the diagnoses of fusion of the incus to the middle ear of the stapes, and the so-called columella or monopodal stapes.1
cavity or to the malleus is the same as for other ossicular chain The columella type is one of the most common of this group.
defects. The most typical incudostapedial anomalies are fibrous These defects also can be classified as part of the group of incudo-
union, absence of the joint or bony fusion. Incudostapedial fusion stapedial disarticulation defects or disconnection defects. When
was the second most common middle ear defect in the Teunissen and there are alterations of its superstructure, the stapes is not con-
Cremer series.1 As mentioned in the above entry, recently Teunissen nected with the incus.
and Cremers2 described an autosomal dominant condition of stapes The genetics of these malformations are unclear. Most of the
fixation, brachydactyly, brachytelephalangy, and, in a few cases, fu- information on defects of the stapes involve fixation of the stapes
sion of the short process to the fossa incudis. This fusion defect has footplate. Sellars and Beighton2 reported a family with an appar-
also been seen in Winter syndrome, branchio-oto-renal syndrome ently autosomal dominant condition involving type I microtia and
(incus fused to stapes), and Crouzon syndrome.3 Tympanoplasty absence of the stapes superstructure. In this condition there are
may be performed for this and for other forms of bony ossicular varying degrees of hypoplasia of the incus and fixation of the stapes
fixation.4,5 footplate. This particular syndrome is of note, since it seems to
comprise a range of findings, including alterations of the long
References (Fusion Defects of the Incus)
process of the incus, lenticular process of the incus, and stapes
1. Teunissen EB, Cremers CWRJ: Classification of congenital middle ear superstructure. Variability in the reported family suggests a com-
anomalies: report on 144 ears. Ann Otol Rhinol Largyngol 102:606,
mon denominator in the development in this area of the ossicular
1993.
chain. The malleus was usually normal. It is of note that the stapes
2. Teunissen EB, Cremers CWRJ: An autosomal dominant inherited
syndrome with congenital stapes ankylosis. Laryngoscope 100:380, 1990. superstructure and perhaps the long process of the incus come
3. Nadol JB: Pathoembryology of the middle ear. Birth Defects Orig Artic from the second branchial arch. Structural alterations of the stapes
Ser XVI(4):181, 1980. also occur in Treacher Collins syndrome, oculo-auriculo-vertebral
4. Tos M: Tympanoplasty for bony ossicular fixation. Arch Otolaryngol spectrum, Escher-Hirt syndrome, trisomy 13, microtia with meatal
99:422, 1974. atresia, and a number of less common disorders (Table 10-11).3

Fig. 10-25. A. Agenesis of the stapes and stapedius muscle. B. Agenesis of the stapes except for a remnant of the
anterior crus; agenesis of stapedius muscle. C. Partial absence of the anterior and posterior crus of the stapes.
 Ear 363

Treatment should center on removing the malformed stapes cular chain. In a series dealing with reconstruction of the middle
atraumatically and leaving a mobile footplate. A laser may be help- ear by Scheer,1 16 of 17 patients had a structurally abnormal stapes
ful in removing an ossified stapedius tendon or abnormal stapes related to their conductive hearing loss without an abnormal ex-
suprastructure. Once accomplished, a prosthesis can be placed ternal ear or meatus, and three of these had congenital fixation. In a
from the footplate to either the tympanic membrane, incus (if study of congenital middle ear deafness involving patients with
available), or malleus handle.4,5 normal external ears, three of 15 had congenital stapes fixation.6 In
the series by Teunissen and Cremers, 30% of their 144 cases had
References (Hypoplasia/Aplasia/Malformation congenital stapes ankylosis.7
of the Stapes) The etiology of stapes fixation is usually not determined.
1. Jaffe BF: Middle ear isolated anomalies. In: Hearing Loss in Children: Most case descriptions in the otology literature provide no family
A Comprehensive Text. BF Jaffe, ed. University Park Press, Baltimore, history. However, there are a number of exceptions to this
1977, p 286. statement, and there has been very little systematic study of the
2. Sellars S, Beighton P: Autosomal dominant inheritance of conductive genetic aspects of congenital stapes fixation. The X-linked dis-
deafness due to stapedial anomalies, external ear malformations and order mentioned above should always be considered, and there
congenital facial palsy. Clin Genet 23:376, 1983. are probably more autosomal dominant families than are sus-
3. Nadol JB: Pathoembryology of the middle ear. Birth Defects Orig Artic
pected. There are no studies of parents of individuals with con-
Ser XVI(4):181, 1980.
genital stapes fixation, and unilateral findings could certainly go
4. Briggs RJS, Luxford WM: Correction of conductive hearing loss in
children. Otolaryngol Clin N Am 27:607, 1994. undetected. Treacher Collins syndrome probably represents the
5. De La Cruz A, Doyle KJ: Ossiculoplasty in congenital hearing loss. most common of the syndromic disorders in which this defect
Otolaryngol Clin N Am 27:799, 1994. occurs.
Congenital stapes fixation has been seen in individuals with
prenatal thalidomide syndrome. None of the other human ter-
10.27 atogens has been implicated as a cause of this ossicular defect, but
Congenital Fixation of the Stapes it is plausible that it is a feature of the isotretinoin embryopathy.

Definition Prognosis, Prevention, and Treatment

Congenital fixation of the stapes is the congenital fusion of the Treatment options are dictated by the severity of stapes fixation
footplate of the stapes to the oval window, thus altering the sta- and the presence of other ossicular anomalies. If stapes fixation is
pedial-vestibular joint. Congenital stapes footplate fixation is minimal, one can try to mobilize the footplate. House noted good
considered in an individual with a nonprogressive conductive long-term results following stapes mobilization procedures.2
hearing loss in which there is no other ossicular chain defect de- For more extensive stapes fixation, a stapedectomy or sta-
tected on radiography. A definitive diagnosis is made during ex- pedotomy procedure is advocated. Proponents have shown good
ploratory tympanotomy. The stapes footplate may be totally or postoperative results with both techniques. Stapedectomy in-
partially fixed on gentle palpation. Absence of the oval window is volves complete removal of the footplate; stapedotomy involves
sometimes associated with stapes ankylosis. When there is total creation of a fenestra in the footplate. A prosthesis is then placed
fixation, about 50–100% of the footplate is fixed to the otic capsule. for either procedure between the incus and oval window niche.
Audiometry will reveal a maximum flat 60 dB conductive loss. A temporalis fascia graft or trajal perichondrium is typically
About one-fourth of the cases reviewed by Scheer1 had partial placed between the prosthesis and oval window niche for sta-
fixation with less conductive loss. pedectomy procedures to prevent medial migration into the
A historical overview and description of this relatively recently vestibule.
described congenital defect was presented by House2 in 1969. He The most challenging situation arises when the stapes fixa-
proposed that congenital fixation of the stapes footplate was due to tion is associated with incus and malleus abnormalities. In this
an abnormality of the differentiation of the annular ligament. The case, a total ossicular reconstructive prosthesis (TORP) is neces-
defect is sometimes associated with absence of the oval window, sary. It is placed over a temporalis fascia/trajal perichondrium
which some otologists feel is the full expression of this morphologic following a stapedectomy procedure. A thin piece of trajal carti-
defect of the stapedial-vestibular joint. While the otology literature lage is then interposed between the TORP and tympanic mem-
usually states that family history is negative, there are a number of brane. Battaglia et al.8 reviewed 21 patients undergoing TORP and
families reported with an X-linked form associated with the peri- stapes footplate removal. Hearing results indicated that 52% have
lymphatic gusher at surgery. In addition, there are a number of an airbone gap less than 20 dB. House and Teufert9 noted similar
autosomal dominant families reported in the Japanese literature.3 results. Awareness of the possibility of the perilymphatic gusher is
Table 10-11 lists a number of syndromes in which congenital stapes always necessary prior to surgical intervention. This finding
fixation occurs. Of special note are the two symphalangism con- is seen in stapes fixation of various causes, including the X-linked
ditions that are due to mutations of NOGGIN and the X-linked type.
disorder of mixed hearing loss with congenital fixation of the stapes
footplate and the perilymphatic gusher at the time of surgery. This References (Congenital Fixation of the Stapes)
latter condition has been mapped to the long arm of the X chro- 1. Scheer AA: Correction of congenital middle ear deformities. Arch
mosome and is due to mutations of POU4.4,5 Otolaryngol 85:55, 1967.
2. House HP: Congenital fixation of the stapes footplate. Otolaryngol
Clin N Am 2:35, 1969.
Etiology and Distribution
3. Higashi K, Yamakawa K, Itani O, et al.: Familial ossicular malforma-
The exact frequency of congenital stapes fixation is not known, but tions: case report and review of literature. Am J Med Genet 28:655,
it does represent the second most common anomaly of the ossi- 1987.
364 Craniofacial Structures

4. Wallis C, Ballo R, Wallis G, et al.: X-linked mixed deafness with stapes ossicular reconstruction prosthesis (TORP).2 Hearing initially
fixation in a Mauritian kindred: linkage to Xq probe pDP34. Genomics improved in four of the six patients but was lost over time. Given
3:299, 1988. the poor surgical outcome and potential morbidity of the proce-
5. Brunner HG, van Bennekom A, Lambermon EM, et al.: The gene for dure, use of hearing aids is recommended.
X-linked progressive mixed deafness with perilymphatic gusher during
stapes surgery (DFN3) is linked to PGK. Hum Genet 80:337, 1988. References (Absence of the Oval Window)
6. Nadol JB: Pathoembryology of the middle ear. Birth Defects Orig Artic
Ser XVI(4):181, 1980. 1. Swartz JD, Glazer AU, Faerber EN, et al.: Congenital middle-ear
7. Teunissen EB, Cremers CWRJ: Classification of congenital middle deafness: CT study. Radiology 159:187, 1986.
ear anomalies: report on 144 ears. Ann Otol Rhinol Laryngol 102:606, 2. Lambert PR: Congenital absence of the oval window. Laryngoscope
1993. 100:37, 1990.
8. Battaglia A, McGrew BM, Jackson CG: Reconstruction of the entire 3. Nadol JB: Pathoembryology of the middle ear. Birth Defects Orig Artic
ossicular conduction mechanism. Laryngoscope 133:654, 2003. Ser XVI(4):181, 1980.
9. House JW, Teufert KB: Extrusion rates and hearing results in ossicular 4. Jahrsdoerfer R: Congenital malformations of the ear analysis of 94
reconstruction. Otolaryngol Head Neck Surg 125:135, 2001. operations. Ann Otol Rhinol Laryngol 89:348, 1980.
5. Sterkers JM, Sterkers O: Surgical management of absence of the oval
window with malposition of the facial nerve. Adv Otorhinolaryngol
40:33, 1988.
10.28
Absence of the Oval Window
10.29
Nondevelopment of the oval window of the middle ear is usually Congenital Cholesteatoma
associated with congenital defects of the stapes, including foot-
plate fixation. Congenital absence of the oval window would usually Definition
be recognized at the time of surgery in individuals with conductive Congenital cholesteatoma is a cystic epithelial remnant of embry-
hearing loss. In the series of Swartz et al.,1 one individual was re- ologic origin found medial to an intact tympanic membrane.
cognized by computed tomography. Some otologists feel that con-
genital stapes fixation is a milder degree of maldevelopment of the Diagnosis
stapedial-vestibular joint. Abnormalities of the facial nerve canal and
While the actual existence of congenital cholesteatoma was once
lower ossicular chain, especially the long process of the incus, usually
debated in the otology literature, the present consensus is that
accompany this defect. Commonly the long process of the incus is
this disorder does exist. Many children present with conductive
short and more medially positioned. Some individuals have also had
hearing loss. An opaque or whitish-appearing mass is typically
accompanying absence of the round window. The stapes is invariably
seen behind the tympanic membrane. Many cases are diagnosed
abnormal. In Lambert’s review2 of seven cases, aplasia of the stapes
during surgical exploration for the cause of conductive hearing
was present in one case, and structurally abnormal stapes were
loss. High-resolution computed tomography scanning may detect
present in the remaining six cases.
these lesions as a homogenous mass in the middle ear. The review
Family history data on this disorder are not available. Absence
by McDonald et al.1 indicates that congenital cholesteatomas
of the oval window has occasionally been seen in Treacher Collins
make up about 2% of all such lesions. Derlacki and Clemis ori-
syndrome and in the oculo-ariculo-vertebral spectrum. In addition,
ginally established the clinical criteria for diagnosis: (1) no history of
individuals with Wildervanck syndrome and 22q11 deletion have
otorrhea, perforation, or previous otologic procedures; (2) normal
been reported with absence of the oval window. This defect is also
pars tensa and flaccida; and (3) a pearly white mass medial to an
seen with Mondini dysplasia of the inner ear.3 Absence of both the
intact tympanic membrane. Levenson et al.3 relaxed the criteria by
round window and the stapes has been seen as the middle ear defect
including some children with serious otitis media.
in a distinctive dominant syndrome involving limb reduction de-
The mean age of presentation as reported in more recent
fects, cardiac arrhythmias, abnormal external ears, and conductive
reviews is 4.5 years.4,5 There is a male preponderance of nearly
hearing loss.
3:1 in recent reports. If allowed to enlarge, these cholesteatomas
Other than the presence of this finding in some Mendelian
can erode the ossicles and spread to the attic and antrum. A child
syndromes, genetic information is unavailable. As is the case of
with a conductive hearing loss in the absence of serious effusion
other middle ear defects, especially congenital stapes fixation, little
should be suspected of having a cholesteatoma unless proved
study of family histories has been accomplished. Congenital absence
otherwise.6
of the oval window has been reported in cases of prenatal thalido-
mide syndrome.
The frequency of this particular finding is unknown. Lambert’s Etiology and Distribution
review2 in 1990 included only seven papers from 1958 to 1990 on Von Remak in 1854 (cited in reference 7) suggested that many
this topic. Jahrsdoerfer’s series4 of 13 patients represents the largest cholesteatomas may be dermoids originating from epidermal rests
to date. This investigator suggested that congenital absence of the formed during embryologic development.7 Michaels in 1988 de-
oval window may in fact be related to abnormal development of the monstrated epidermoid tissue in a fetus at 5 to 6 weeks gestation,
facial nerve. that apparently involuted by 33 weeks.8 He suggested that this
The surgical challenges to this anomaly are significant given epidermoid tissue, if persistent, could result in primary cholestea-
the potential risk to the facial nerve and inner ear. Sterkers and toma located in the anterosuperior portion of the mesotympanum.
Sterkers have described success with drilling a fenestra above the Other theories such as epithelial implantation, squamous meta-
facial nerve and placing a prosthesis to the incus in six cases.5 plasia from otitis media, or epithelial migration through the tym-
Lambert reviewed the outcomes of six patients who underwent panic ring have also been considered.9,10 Currently, the epidermal
vestibulotomios and reconstruction with House wires or a total rest theory has been the most widely accepted one.
 Ear 365

child with an unusual branchial arch abnormality consisting of

Treatment, Prevention, and Prognosis anotia and trilobulated mass in the area of the pinnae. The per-
The treatment of congenital cholesteatoma is surgical removal. sistence of the stapedial artery in this case was demonstrated on
The major impact of these lesions, as mentioned above, is os- arteriography.
sicular destruction and occasional involvement of the inner ear. The frequency of this condition cannot be determined. As of
The sequence of events is such that they grow, become secondarily Pascual-Castroviejo’s review,2 there had only been about 20 re-
infected, and with time produce destruction of the osseous chain ported cases. Only a few reports have been published since.1,3
and temporal bones. Occasionally, the lesion will recur even after Although the pathogenesis is unclear, the condition does
surgery. Surgical strategy depends on the extension of the lesion. appear to represent the persistence of an artery that usually re-
Lesions involving the anterosuperior mesotympanum can be re- gresses during embryonic development. The stapedial artery is
moved via an anteriorly based tympanotomy with excellent results. present in the developing embryo at 35 days as a branch of the
For extensive tumors involving the entire mesotympanic and an- hyoid artery. By age 55 to 60 days, the branches of the stapedial
trum, a mastoidectomy may need to be performed. In general, the artery have become part of the ophthalmic artery, and the arteries
surgeon attempts to preserve as much of the ossicular chain and originate in the third pharyngeal arch. The trunk of the stapedial
posterior canal wall as possible without sacrificing the extent of artery disappears during the 3rd month of fetal life.
removal. Reexploration is undertaken when the surgeon cannot be It is not clear if the presence of a stapedial artery is devel-
certain of residual disease. Ossiculoplasty is usually performed once opmentally related to the OAV spectrum or to other middle ear de-
epithelial removal is complete. fects. It simply may be that this arterial variation occurs in conjunction
with other developmental disorders of the external and middle ear.
References (Congenital Cholesteatoma)
References (Persistence of the Stapedial Artery)
1. McDonald TJ, Cody DT, Ryan RE: Congenital cholesteatoma of the
1. Yilmaz T: Persistent stapedial artery; MR angiographic and CT
ear. Ann Otol Rhinol Laryngol 93:637, 1984.
findings. Am J Neuroradiol 24:1133, 2003.
2. Derlacki EL, Clemis JD: Congenital cholesteatoma of the middle ear
2. Pascual-Castroviejo I: Persistence of the stapedial artery in a first arch
and mastoid. Ann Otol Rhinol Laryngol 74:706, 1965.
anomaly: a case report. Cleft Palate J 20:146, 1983.
3. Levenson MJ, Parisier SC, Chute P, et al.: A review of twenty congenital
3. Pahor AL, Hussain SS: Persistent stapedial artery. J Laryngol Otol
cholesteatomas of the middle ear in children. Otolaryngol Head Neck
106:254, 1992.
Surg 94:560, 1986.
4. Friedberg J: Congenital cholesteatoma. Laryngoscope 104(3 Pt 2):1,
1994.
5. Friedberg J: Congenital cholesteatoma. In: Pediatric Otology and Neuro- 10.31
tology. Lalwani AK, Grundfast KM, eds. Lippincott Williams and Wilkins, Highly Placed Jugular Bulb
Philadelphia, 1998, p 284.
6. Chem JM, Schloss MD, Manoukian JJ, et al.: Congenital cholesteatoma
of the middle ear in children. J Otolaryngol 18:44, 1989. A highly placed jugular bulb is an anomaly of placement of the
7. Curtis AW: Congenital middle ear cholesteatoma: two unusual cases jugular bulb in which the location of the vascular structure inter-
and a review of the literature. Laryngoscope 89:1159, 1979. feres with ossicular chain motion and produces conductive hearing
8. Michaels L: Origin of congenital cholesteatoma from a normally occurring loss. This rare anomaly is sometimes associated with conductive
epidermoid rest in the developing middle ear. Int J Pediatr Otorhinolar- hearing loss.1 A bluish-red mass can be seen in the posterior por-
yngol 15:51, 1988. tion of the middle ear behind the tympanic membrane. A vascular
9. Sade J, Babiacki A, Pinkus G: The metaplastic and congenital origin of mass is recognized at the time of surgical exploration. A venogram
cholesteatoma. Arch Otolaryngol 96:119, 1983.
would show distension of the jugular bulb.
10. Aimi K: Role of the tympanic ring on the pathogenesis of congenital
Because of the rarity and small number of cases of this
cholesteatoma. Laryngoscope 93:1140, 1983.
condition, its association with other malformations or syndromes
is unknown. The association of a highly placed jugular bulb with
conductive deafness and interference with the osseous chain is
10.30
uncommon. Moretti1 reviewed the literature on this topic in 1976.
Persistence of the Stapedial Artery
The etiology and pathogenesis are unknown. In the case he stu-
died, there was hypoplasia of the contralateral sinuso-jugular
The stapedial artery is usually present in the early stages of em- system. Other cases can be due to normal variation in the height
bryonic development of the middle ear and thereafter regresses. Its of the jugular bulb and occasional dehiscence of the floor of the
persistence beyond this point is considered a malformation. Per- middle ear. Kondoh et al.2 recently documented a case associated
sistence of the stapedial artery is usually diagnosed during middle ear with hearing loss.
surgery for conductive hearing loss. While there are some radiologic This anomaly is an uncommon cause of unilateral conductive
clues on a skull x-ray (absence of the foramen spinosum in the loss due to its involvement with the middle ear chain. Because of
radiograph of the cranial base), it is difficult to diagnose even with the unilateral involvement, vascular surgery would involve deci-
carotid angiography. However, recent reports of successful detection sions about risks versus benefits.
with computed tomography scanning have been reported.1
It is also difficult to sort out the various associations with References (Highly Placed Jugular Bulb)
persistence of the stapedial artery, because it is usually found 1. Moretti JA: Highly placed jugular bulb and conductive deafness. Arch
at the time of middle ear surgery and thus, there is clearly an Otolaryngol 102:430, 1976.
ascertainment bias. It has been seen in individuals with the oculo- 2. Kondoh K, Kitahara T, Mishiro Y, et al.: A rare case of the high jugular
auriculo-vertebral (OAV) spectrum. In a review by Pascual- bulb associated with only hearing ear. (Article in Japanese.) Nippon
Castroviejo,2 persistence of the stapedial artery was reported in a Jibiinkoka Gakkai Kaiho 105:893, 2002.
366 Craniofacial Structures

Inner Ear
Daryl A. Scott and John C. Carey

10.32 malformation: (1) Michel aplasia; (2) Mondini-Alexander dyspla-

Vestibulocochlear Dysplasias sia; (3) Bing-Siebenmann dysplasia; and (4) Scheibe dysplasia. Each
of these malformations is summarized in Table 10-12 and described
Definition in detail below.
Vestibulocochlear dysplasias are a continuum of malformations In 1987, Jackler et al. proposed a second classification system
and dysplasias involving the osseous and membranous compo- based on the radiographic appearance of various cochlear mal-
nents of the cochlea, vestibule, and lateral semicircular canals of formations and the hypothesis that the various morphologic
the inner ear. The normal anatomy of the inner ear is shown in patterns seen in the inner ear result from an arrest of maturation
Figure 10-26. during one the states of inner ear embryogenesis.3 This scheme
includes five types: (1) complete labyrinthine aplasia; (2) cochlear
aplasia; (3) common cavity; (4) cochlear hypoplasia; and 5) in-
Diagnosis complete partition. Each of these malformations is summarized in
Individuals with vestibulocochlear dysplasias may seek medical Table 10-13 and described in detail below.
attention for hearing loss or vestibular complaints such as dizziness In 1967, Schuknecht proposed a classification system for vesti-
or vertigo. Historically, little could be done to define the anatomy of bulocochlear dysplasias similar to Omerod’s.4 In this system Michel
the inner ear until an individual was deceased and a postmortem and Scheibe types are identical to those proposed by Omerod, but
examination could be performed. In contrast, modern radiologic Mondini dysplasia is broadly defined as incomplete development
techniques can be used to explore the inner ear with relative ease. of the bony and membranous labyrinth. Bing-Siebenmann type is
High resolution computed tomography (CT) in both the deleted, and a milder sembranous cochlear dysplasia (Alexander
axial and coronal views is the standard method of examining the dysplasia) is added.
bony labyrinth and internal auditory meatus. Four to five 2 mm
axial sections are usually sufficient to exclude congenital dysplasia, Michel or Complete Labyrinthine Aplasia
with 1 mm sections being obtained if a dysplasia is visualized. Formation of the inner ear begins during the 3rd week of gesta-
Magnetic resonance imaging techniques, including gradient echo, tion when a thickening of ectoderm, the otic placode, forms on
three dimensional Fourrier transformation-constructive inter- the lateral surface of the neural tube. Failure of development at this
ference in the steady state (3-DFT CISS), and fast or turbo-spin stage results in complete labyrinthine aplasia of the Jackler et al.
echo two-dimensional sequencing heavily weighted with high classification with no development of inner ear structures. Michel
signal from fluids (T2), are also used for inner ear imaging.1 aplasia may be bilateral or unilateral and can be seen in con-
Dysplasias of the membranous and osseous labyrinth are junction with other abnormalities caused by failure of the otic
classified on an anatomic and histologic basis according to schemes placode. These include nondifferentiation of the stapes, abnormal
that describe a continuum of severity. A classification proposed course of the facial nerve, hypoplasia of the petrous bone, and
by Omerod in 1960 is still in common use today.2 This system abnormal course of the transverses sinus and jugular veins.
divides vestibulocochlear dysplasias into four types, each named Michel aplasia is rare and accounted for only about 1% of radi-
after the individual who wrote the classical account of that ologically apparent cochlear malformations in the report of

Fig. 10-26. Schematics of the bony internal ear (left) and membranous internal ear (right).
 Ear 367

Table 10-12. Omerod’s classification system of vestibulocochlear dysplasias2

Malformation Description Associated Disorders

Michel aplasia Complete lack of inner ear development Familial autosomal dominant
Familial autosomal recessive
Anencephaly
Klippel-Fiel anomaly
Wildervanck
Thalidomide embryopathy
Mondini-Alexander Cochlea contains a decreased Wildervanck
dysplasia number of turns and underdevelopment Waardenburg
of vestibular structures Del 22q11
Pendred
CHARGE
Congenital cytomegalovirus infection
Trisomy 18, 13
Bing-Siebenmann Malformation restricted to the membranous Jervell and Lange-Nielsen
dysplasia labyrinth. Normal bony labyrinth Usher
Oculo-auriculo-vertebral spectrum
Scheibe dysplasia Malformation of the membranous cochlea and Waardenburg
saccule. No vestibular involvement Congenital rubella infection
and normal bony labyrinth

Table 10-13. Jackler classification of radiologically apparent vestibulocochlear malformations3

Malformation Description Equivalent in Omerod’s Classification

Complete labyrinthine Complete lack of inner ear development Michel aplasia

aplasia
Cochlear aplasia Complete lack of cochlear development* No equivalent
Common cavity Cochlea and vestibule form a common Classified by some authors as severe
cavity without internal architecture Mondini-Alexander
Cochlear hypoplasia Small cochlear bud* Classified by some authors as severe
Mondini-Alexander
Incomplete partition Small cochlea with incomplete Mondini-Alexander
or interscalar septum*

*The vestibule and semicircular canals in cochlear aplasia, cochlear hypoplasia, and incomplete partition may be
normal or malformed.

Jackler et al.3 In a recent series by Park et al. of 24 patients with 39

ears involved, four (10%) had the Michel dysplasia.5 Mondini-Alexander Dysplasia or Cochlear Hypoplasia
and Incomplete Partition Dysplasia
Common Cavity Dysplasia Between the 5th and 8th weeks of development, the cochlear duct
During the 4th week of embryonic development, the otic placode undergoes continuous growth. As the cochlear duct grows the
invaginates to form a simple cavity called the otocyst. Arrest at this characteristic turns of the cochlear also form. Arrest of development
stage of development results in the persistence of a large cloaca. In the in the 6th week would result in the formation of a rudimentary
Jackler et al. system, this malformation is designated as the common cochlea, ranging from a small diverticulum to a cochlear bud several
cavity defect. Common cavity defects represent about 13–25% of millimeters in length. This is classified as cochlear hypoplasia in the
vestibulocochlear malformations.3,5 Common cavity dysplasia is as- Jackler et al. classification scheme.3
sociated with increased risk for recurrent otogenic meningitis. Arrest in cochlear development during the 7th week results in
a small, flattened cochlea with only 1 to 1.5 turns instead of the
Cochlear Aplasia 2.5 to 2.75 turns seen at full development. This is referred to as the
In the 5th week of embryonic development, three folds form, re- Mondini-Alexander dysplasia of Omerod’s classification and as
presenting the primordial cochlear, vestibular, and endolymphatic sac incomplete partition in the Jackler et al. classification scheme. The
appendages. Arrested development of the cochlear bud at this stage basal turn of the cochlea is usually fully developed, while the
would result in cochlear aplasia with complete lack of cochlear de- upper turns form a common cavity known as the scala communis.
velopment with preservation, but not necessarily normal develop- Typical findings also include a short cochlear duct, immature
ment, of the semicircular canals and vestibule. Cochlear aplasia is auditory and vestibular sense organs and nerves, a large vestibule,
relatively uncommon vestibulocochlear dysplasia and represents only a bulbous endolymphatic sac, and malformed semicircular canals
about 3–10% of radiologically apparent cochlear malformations.3,5 that can be wide, small, or missing.6
368 Craniofacial Structures

In 1978, Valvassori and Clemis8 described a series of 50 patients,

Bing-Siebenmann Dysplasia out of 3700 referred for tomographic evaluation, whose vestibular
In Bing-Siebenmann dysplasia the development of the bony la- aqueduct was enlarged—1.5 to 8 mm in diameter at the midpoint.
byrinth is normal, but the membranous portion of the cochlea Currently a midpoint diameter of greater than 2 mm is typically
and semicircular canals are malformed or degenerate. Since the used for defining large vestibular aqueduct syndrome. Other terms
petrous bone and the bony cochlea and vestibule are fully formed, for this abnormality include enlarged—or dilated—vestibular
this type of dysplasia cannot be detected radiographically and is aqueduct and large endolymphatic duct. Individuals with large ves-
not included in the Jackler et al. classification.3 Extensive in- tibular aqueducts are at risk for paroxysmal vertigo and progressive
volvement of the membranous cochlea is typical. The sensory sensorineural hearing loss. In one study of 130 children with sen-
endorgan and tectorial membrane are underdeveloped, and the sorineural hearing loss, 18 patients had large vestibular aqueducts.
canal of the cochlea is often collapsed. In cases where the canal of Progression of hearing loss was noted in 46% of these patients
the cochlea is dilated rather than collapsed, the immaturity of the compared to 35% in the absence of this abnormality.9 Large vestib-
sensory endorgan is attributed to a degenerative process rather ular aqueducts have been described in association with Pendred and
than an arrest in development.2 branchio-oto-renal syndrome.
Although Bing-Siebenmann dysplasia is characterized by a In contrast to individuals with large vestibular aqueduct
greater involvement of the semicircular canals and the vestibular syndrome, about 60% of individuals with Meniere disease have a
organ than that seen in Scheibe dysplasia, it is likely that Bing- hypoplastic or narrowed vestibular aqueduct. It is unclear, how-
Siebenmann dysplasia represents a severe form of the more ever, if this abnormality plays a significant role in the disease since
common Scheibe dysplasia. it is not present in all affected individuals and is also found in
21% of individuals without Meniere disease.10,11
Scheibe or Cochleosaccular Dysplasia
Scheibe dysplasia represents the mildest end of the spectrum of Internal Auditory Meatus Abnormalities
vestibulocochlear dysplasias and consists of membranous abnorm- The cochleovestibular nerve passes through the internal auditory
alities primarily of the cochlea with involvement of the saccule. It is meatus (IAM) along with the facial nerve. Several variations of the
also referred to as cochleosaccular dysplasia. In contrast to Bing- internal auditory meatus have been described, including absent,
Siebenmann dysplasia, the membranous utricle and semicircular narrowed, widened, ballooned/bulbous, and tapered configura-
canals are fully formed and functioning. The petrous bone and the tions.12 Absence of the IAM is rare but has been associated with
bony cochlea and vestibule are fully developed, making radiologic thalidomide embryopathy. Although a narrowed IAM (<2 mm) can
diagnosis impossible. The organ of Corti is often rudimentary with be seen in individuals with normal hearing, it is more common in
very few sensory cells, and the stria vascularis is degenerate with individuals with senorinerural hearing loss and may indicate the
relatively few vessels. The canal of the cochlea is collapsed and the hypoplasia or absence of the cochleovestibular nerve. A widened
techtorial membrane is formed but flattened down over the organ of IAM (>8 mm) probably has little significance, except in individuals
Corti and its supporting cells. In cases where the canal of the cochlea in whom an acoustic neuroma is suspected. A ballooned/bulbous
is dilated rather than collapsed, the immaturity of the sensory en- IAM has been associated with the X-linked deafness perilymphatic
dorgan is attributed to a degenerative process rather than an arrest in gusher. A tapered IAM associated with a common cavity or hypo-
development.2 The degree of development can vary throughout the plastic cochlea has been associated with the formation of sponta-
cochlea, and some areas of the cochlea function sufficiently well to neous cerebrospinal fluid fistulae.
provide some level of hearing.
Etiology and Distribution
Semicircular Canal Abnormalities In retrospective reviews of temporal bone CT scans, between 22% and
During the 6th week of embryonic development, the superior, 31% of children with sensorineural or mixed hearing loss had radi-
posterior, and lateral semicircular canals appear as folded in- ologically detectable vestibulocochlear abnormalities.5,13,14 These
vaginations of membrane from the vestibular appendage. Failure abnormalities were more common in children with congenital syn-
of these epithelial folds to form results in complete absence of the dromes than in those with nonsyndromic hearing loss. The true
involved semicircular canal or semicircular canal aplasia. incidence of inner ear malformations in this population is probably
Over time the central portion of each invagination is resorbed, higher than given in these series since abnormalities restricted to the
forming a semicircular duct. Incomplete absorption of the central membranous labyrinth are not detected on CT scans.
membrane results in a pocket-shaped semicircular canal that is Several etiologies have been identified as the cause of inner ear
confluent with the vestibule. Although malformations of the semi- abnormalities: (1) chromosomal abnormalities; (2) single gene
circular canals, or semicircular canal dysplasia, can be an isolated disorders; (3) congenital associations; (4) congenital infections; and
defect, they are often associated with cochlear malformations. (5) toxic exposures (see Tables 10-12 and 10-13). Inherited dis-
Semicircular canal abnormalities have been described in a orders are probably the most common etiology.
number of hearing loss syndromes, including branchio-oto-renal
syndrome, Goldenhar syndrome, Waardenburg syndrome, and Prognosis, Prevention, and Treatment
CHARGE syndrome. A reduction in the incidence of inner ear abnormalities caused by
congenital infection and toxic exposures may be possible through
Vestibular Aqueduct Abnormalities immunization and patient education programs. A prime example is
The vestibular aqueduct is a bony canal through which courses the the dramatic decrease in cases of congenital hearing loss due to
endolymphatic duct. Although most of the membranous labyrinth rubella infections, which have been associated with Scheibe dys-
reaches adult size by the 18th week of fetal life, the vestibular plasia, after the implementation of effective vaccination programs.
aqueduct continues to grow throughout embryonic life, and the In the majority of cases, however, prevention is not possible, and
midpoint diameter of the duct is usually between 0.4 and 1.0 mm.7 medical efforts should be concentrated on preserving residual inner
 Ear 369

ear function, early intervention, timely rehabilitation, and careful 8. Valvassori GE, Clemis JD: The large vestibular aqueduct syndrome.
monitoring and intervention for potential complications. Laryngoscope 88:723, 1978.
The majority of individuals with inner ear abnormalities pre- 9. Arcand P, Desrosiers M, Dube J, et al.: The large vestibular
sent with hearing loss. Patients with inner ear abnormalities should aqueduct syndrome and sensorineural hearing loss in the pediatric
be discouraged from participating in activities that could result in population. J Otolaryngol 20:247, 1991.
10. Sando I, Ikeda M: The vestibular aqueduct in patients with Meniere’s
further damage to the inner ear, such as contact sports, scuba diving,
disease. Acta Otolaryngol 97:558, 1984.
and parachuting. It would also be wise to minimize exposure to 11. Sennaroglu L, Yilmazer C, Basaran F, et al.: Relationship of vestibular
ototoxic medications and loud noise. aqueduct and inner ear pressure in Meniere’s disease and the normal
Early diagnosis of hearing loss and appropriate intervention population. Laryngoscope 111:1625, 2001.
may help to maximize communication potential. Universal newborn 12. Phelps PD, Lloyd GAS: Diagnostic Imaging of the Ear, ed 2. Springer-
screening would detect those patients. Careful monitoring of hearing Verlag, London, 1990.
level throughout life is essential, since individuals with inner ear 13. Antonelli PJ, Varela AE, Mancuso AA: Diagnostic yield of high-
abnormalities are at an increased risk for progressive hearing loss. resolution computed tomography for pediatric sensorineural hearing
Amplification with hearing aids is usually sufficient for au- loss. Laryngoscope 109:1642, 1999.
ditory rehabilitation in individuals with inner ear abnormalities. 14. McClay J, Tandy R, Grundfast K, et al.: Major and minor temporal
bone abnormalities in children with and without congenital sensor-
In cases where hearing aids prove ineffective, cochlear implantation
ineural hearing loss. Arch Otolaryngol Head Neck Surg 128:664, 2002.
may provide improved communication outcomes. Multiple case, 15. Hoffman RA, Downey LL, Waltzman SB, et al.: Cochlear implantation
case series, and literature reviews have been written, which describe in children with cochlear malformations. Am J Otol 18:184, 1997.
the outcomes of cochlear implantation in patients with various 16. Woolley AL, Jenison V, Stroer BS, et al.: Cochlear implantation in
inner ear dysplasias. It appears that all degrees of cochlear dyspla- children with inner ear malformations. Ann Otol Rhinol Laryngol 107:
sia, ranging from incomplete partition to common cavity, can be 492, 1998.
implanted safely and auditory responses expected.15,16 It should
be noted, however, that postoperative speech perception may be
highly variable, and intraoperative and postoperative complication 10.33
may occur. Absolute contraindications to cochlear implantation Prelingual Hearing Loss
include Michel aplasia and absence of the auditory nerve.
Bony dysplasias of the inner ear are associated with an increased Definition
risk of fistulous communication between the subarachnoid space
Prelingual hearing loss is a decrease in auditory acuity with onset
and the middle ear cavity. These communications, called perilym-
in infancy or early childhood that produces potential for difficulty
phatic fistulas, can present with cerebrospinal otorhinorrhea or re-
in communicating.
current attacks of meningitis. Parents should be counseled about the
early signs and symptoms of meningitis and vaccines against Hae-
mophilus influenzae type B, and invasive pneumococcus should be Diagnosis
strongly encouraged. Hearing loss is classified as a decrease in auditory acuity and can
Individuals with inner ear abnormalities are also at risk for be classified according to type, severity, and configuration. Types
perilymphatic fistulas as a result of head trauma or barometric of hearing loss include (1) sensorineural, (2) conductive, and
insult. Perilymphatic fistulas are an abnormal connection between (3) mixed. Sensorineural hearing losses result from disorders of
the inner and middle ear that allows perilymph fluid to escape the cochlea or the auditory branch of the VIII cranial nerve.
into the middle ear compartment. Perilymphatic fistulas usually Conductive hearing losses are due to interference with the
occur due to tears or ruptures of the oval window annulus, the transmission of sound vibrations to the sensory apparatus. When
round window membrane, or both. Symptoms include hearing both sensorineural and conductive hearing loss occur in the same
loss, ranging from mild and fluctuating to sudden and profound; ear, the hearing loss is considered mixed.
tinnitis; aural fullness; and vestibular symptoms such as vertigo, The severity of hearing loss is divided into four levels: (1) mild,
disequilibrium, lightheadedness, and intolerance to motion. 25 to 40 dB, (2) moderate, 41 to 70 dB, (3) severe, 71 to 90 dB, and
(4) profound, greater than 90 dB. Progressive forms of hearing loss
References (Vestibulocochlear Dysplasias) are characterized by increasing severity of hearing loss over time in
contrast to stable forms where the severity is constant and fluc-
1. Graham JM, Phelps PD, Mechaels L: Congenital malformations of the
inner ear and cochlear implantation in children: review and temporal tuation forms where the severity waxes and wanes unpredictably.
bone report of common cavity. J Laryngol Otol 114(suppl 25):1, 2000. The extent to which low, middle, and high frequencies are affected
2. Omerod FC: The pathology of congenital deafness. J Laryngol Otol determines the configuration of the hearing loss.
74:919, 1960. Concerns of hearing loss in a child may arise from a failed
3. Jackler RK, Luxford WM, House WF: Congenital malformations of the newborn hearing screen, failure to reach developmental milestones,
inner ear: a classification based on embryonogenesis. Laryngoscope parental concern, or the presence of risk factors for hearing loss.
97(suppl 40):2, 1987. Screening tests based on otoacoustic emission (OAE) or auditory
4. Schuknecht HF: Pathology of sensorineural deafness of genetic origin. brainstem response (ABR) can help to identify children with hearing
In: Deafness in Childhood. McConnell F, Ward PH, eds. Vanderbilt
loss, but the diagnosis is made by an audiologist after careful ad-
University Press, Nashville, TN, 1967, p 69.
ministration of a battery of age-appropriate tests to assess the in-
5. Park AH, Kau B, Hutaling A, et al.: Clinical course of pediatric inner
ear malformation. Laryngoscope 110:1715, 2000. tegrity of the auditory system and to estimate the type, degree, and
6. Schuknecht HF: Mondini dysplasia: a clinical and pathological study. configuration of the hearing loss.
Ann Otol Rhinol Laryngol 89(suppl 65):1, 1980. Genetic forms of hearing loss can occur in isolation—non-
7. Pyle GM: Embryological development and large vestibular aqueduct syndromic—or as a component of a genetic syndrome. Over 300
syndrome. Laryngoscope 110:1837, 2000. hearing loss syndromes have been reported. The characteristics
 Table 10-14. Common hearing loss syndromes
Hearing Loss Syndrome Clinical Features Gene or Locus

Alport Hereditary nephritis (microscopic hematuria and/or proteinuria) COL4A3

COL4A4
COL4A5
Branchio-oto-renal (BOR) Preauricular pits, branchial fistulas or cysts, anomalous pinna EYA1
Second locus at 1q31
Jervell and Lange-Nielsen Syncopal episodes, prolonged QT interval on electrocardiogram KVLQT1
KCNE1
Pendred Thyroid goiter SLC26A4
Stickler Cleft palate, Pierre Robin sequence, flat midface, COL2A1
severe myopia, cataracts, marfanoid habitus COL11A2
COL11A1
Treacher Collins Downward-slanting palpebral fissures, coloboma of lower TCOF1
eyelid, ear tags, mandibular hypoplasia, anomalous pinna,
cleft palate
Usher Retinitis pigmentosa, vestibular abnormalities (Type 1 and 3) Type 1A 14q32
Type 1B MYO7A
Type 1C USH1C
Type 1D CDH23
Type 1E 21q
Type 1F PCDH15
Type 1G 17q24-25
Type 2A USH2A
Type 2B 3q23-24.2
Type 2C 5q14.3-21.3
Type 3 USH3
Waardenburg White forelock or premature graying of hair, fused eyebrows, Type I PAX3
bicolored iris or two eyes of different colors, telecanthus, Type II MITF
pigmentary anomalies including partial albinism Type III PAX 3
Type IV EDNRB, EDN3, SOX10

Table 10-15. Genes responsible for nonsyndromic hearing loss

Locus* Gene Locus* Gene

Autosomal Dominant Genes Autosomal Recessive Genes

DFNA1 DIAPH1, 5q31 DFNB1 GJB2 (Cx26), 13q11-q12

DFNA2 GJB3 (Cx31), 1P34 GJB6 (Cx30), 13q12

DFNA3 GJB2 (Cx26), 13q11-q12 DFNB2 MYO7A, 11q13.5

GJB6 (Cx30), 13q12 DFNB3 MYO15, 17p11.2
DFNA5 DFNA5, 7p15 DFNB4 SLC26A4, 7q31
DFNA6/DFNA14 WFS1, 4p16.1 DFNB6 TMIE, 3p21
DFNA8/DFNA12 TECTA, 11q22-q24 DFNB7/DFNB11 TMC1, 9q13-q21
DFNA9 COCH, 14q12-q13 DFNB8/DFNB10 TMPRSS3, 21q22.3
DFNA10 EYA4, 6q23 DFNB9 OTOF, 2p23-p22
DFNA11 MYO7A, 11q13.5 DFNB12 CDH23, 10q21-q22
DFNA13 COL11A2, 6p21.3 DFNB16 STRC, 15q15
DFNA15 POU4F3, 5q31 DFNB18 USH1C, 11p15.1
DFNA17 MYH9, 22q11.2 DFNB21 TECTA, 11q22-q24
DFNA22 MYO6, 6q13 DFNB22 OTOA, 16p12.2
DFNA28 TFCP2L3 DFNB29 CLDN14, 21q22.3
DFNA36 TMC1, 9q13-q21 DFNB30 MYO3A, 10p11.1
DFNA48 MYO1A, 12q13-q15 DFNB37 MYO6, 6q13

X-Linked

DFN3 POU3F4, Xq21.1

*As the chromosomal locations—loci—of the various genes responsible for nonsyndromic hearing loss are discovered, they are given specific
designators based on their inheritance pattern and their order of discovery. Loci of genes causing autosomal dominant nonsyndromic hearing loss are
given the designation DFNA and then numbered sequentially. Autosomal recessive loci have DFNB as their common designator and X-linked loci
have DFN as their common designator. As of 2003 there were 51 dominant loci, 39 recessive loci, and eight X-linked loci reported.

370
 Ear 371

of several common syndromes are listed in Table 10-14 and ence of risk factors for hearing loss, including stigmata of a hearing
have been thoroughly cataloged by Gorlin et al.1 The genes for many loss syndrome, should also trigger formal audiologic testing.
hearing loss syndromes have been identified, and in some cases Referral to a clinical geneticist is recommended when in-
genetic testing on a research or clinical basis is available. herited forms of hearing loss are diagnosed or suspected.5 A
In the past, a diagnosis of nonsyndromic hearing loss was clinical geneticist may be helpful in making the diagnosis of a
typically made as a diagnosis of exclusion after a careful history, hereditary syndrome when findings are equivocal or subtle. Fa-
physical exam, and laboratory testing failed to reveal evidence of a milies can also benefit from counseling available through a clinical
hearing loss syndrome or an environmental etiology. The identi- geneticist in terms of prognosis and recurrence risk. Protocols for
fication of several genes that cause nonsyndromic hearing loss the evaluation of the child with hearing loss have been developed
has opened the door for the development of genetic tests for by expert groups.4,6
nonsyndromic hearing loss (Table 10-15).2 However, the cost- After hearing loss has been diagnosed, families should be en-
effectiveness of most of these tests, in open populations, is limited couraged to explore all available communication options and to
by the relatively small percentage of nonsyndromic hearing loss choose a method that is consistent with the child’s corrected
cases that are attributable to a particular gene. A notable exception hearing level and their own willingness to learn new communica-
is genetic testing for mutations in the connexin 26 gene (GJB2), tion skills. Medical interventions may range from auditory am-
which accounts for about 20–30% of congenital nonsyndromic plification with hearing aids to cochlear implantation. The Food
hearing loss in the United States and is a common cause of non- and Drug Administration approved cochlear implantation in
syndromic hearing loss worldwide.3,4 Testing for mutation of children in 1990. Currently, over 50% of implants are placed in
connexin 26 gene has become routine in the evaluation of infants children. They are usually placed before age 2 years with excellent
and children with nonsyndromic hearing loss. result in language.7
Limiting medical intervention and adopting a nonverbal
Etiology and Distribution form of communication is also a viable option. A large number of
Hearing loss may be caused by a number of environmental and national, regional, and local organizations have been formed to
disease-related factors, including viral and bacterial infections, pre- provide information and support to families.8
maturity, hypoxic insults, hyperbilirubinemia, exposure to ototoxic
medications, and trauma. However, improvements in health care
References (Prelingual Hearing Loss)
have resulted in significant reductions in the number of cases at-
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