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AHMED HAMMOODI
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2)Trisomy 18 (Edwards syndrome)
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•!• Clinical features 2nd most common autosomal trisomy
.. ••.. •..a ,,.>@ J Rocker bottom feet

AHMED HAMMOODI
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•!• Most common cardiac defect ?
Overlapping fingers
Clenched fist ./ Ventricular septal defect (VSD)
./ At rial se ptal defect (ASD)
Short sternum
./ PDA
Hypoplastic nails
Hypoplastic nasal alae •!• Most common cause of death?
IUGR ./Central apnea
Intellectual disability
•!• Prenatal screen lab finding?
Microcephaly ./ Low a feto protein
Hypertonia ./ Low est riol
,/ LOW hCG eeo;owcon souoms
Prominent occiput
Micrognathia •!• Prognosis
Limited hip abduction ./ 50% d ie in the 1 st w eek of life
Cleft lip I palate ./ 90% die by 1 year of age
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1• 3)Trisomy 13 (Patau syndrome)
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.. lJ •!• Clinical features 3rd most common autosomal trisomy
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./ Midline defect

AHMED HAMMOODI
I ti ..
" " " " " ./ Aplasia cutis congenita •!• Most common cardiac defect?
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./ Microphthalmia 1. Ventricular septal defect (VSD)
./ Microcephaly 2. Atrial septa l defect (ASD)
3. PDA
./ Postaxial polydactyly
./ Hypotonia
•!•Most common cause of
./ Holoprose ncephaly
death?
./ Hypoplastic I abse nt ribs
Centra I apnea Pedioulcons'"'ores
./ Abdominal wall defect
./ Deafness
D ./ Colobomas
•!• Prognosis
./ 70% die in the 1st 3 months of
./ Capillary hemangioma life
./ Genital anomalies ./ 95% die by 3 years of age
./ Clenched fist ./ Rarely reach up to 10 years
II
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)•I 4)Turner Syndrome
•••
• Labs finding ?
./ High FSH
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45(X0)
!! '' )! ia fi fi
,/ High FSH/LH

.. .. .
,/ Low estradiol
• • • ••
•••• Clinical features widely
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straked
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./ Short stature
•••
• What is the most common renal

AHMED HAMMOODI
''.. I»I ..
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• ./
./
Lymphedema of hands & feet
Shield chest
anomaly?
./ Horseshoe kidney
./ Cubitus valgus ,/ Dou ble collecting system
./ Low posterior hairline
./ Posterior rotated ears •••
• Increases risk of :
./ Webbed neck & Cardia C ./ Hypothyroidism
,/ Short 4 t h metacarpal bone
./ Hashimoto disease Ped1otric On Squuro&
./ No rmal intelligence (except Math) ./ Celiac disease
./ Inflammatory bowel disease
•••
• What is the most consistent f inding?
./ Short statu re (SHOX gene)
->
•••
• Increases risk of which Malignancy?
./ Ovarian dysgenesis cstreet) ./ Gonadoblastoma

W •!• What is the most common cardiac

•!• Treatment
defect?
./ Growth ho rmone
1. Bicuspi d aortic valve
./ Estrogen therapy
2. Coarctation of aorta
(( )f )i
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)( !! s) Noonan Syndrome
• ' • •
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••• ••••
v

• ' ' • " "

a!l • Clinical features What is the most common
Mi ft ! " ::; :i cardiac defect?
.. ./
•• Q
Down slanting palpebral fissures

AHMED HAMMOODI
• " " " "
./ 1. Pu lmo nary st enosis
8 !\ ... C· I • ./
Short stature
2. Hypertrophic cardiomyopathy
Shield chest
./ Cubitus va lgus
B. •••• Labs finding ?
./ Low posterior hairline ./ Clotting factor deficiencies
./ Webbed neck • Mainly factor XI & XII
./ Posterior rotated ears ./ Ab norma l plate let
./ Cryptorch id ism count/ function
./ Intellectual disability
./ Delayed puberty •••• Increases risk of which
./ Ptosis Malignancy ?
Pcthotrie on Sc,.Jorcs
,/ Acute lymphocytic leukemia (ALL)
•••
• Mode of inheritance?
,/ Chronic myeloid leukemia (CM L)

./ Autosomal dominant
•••
• Treatment
./ PTPNll gene on 12q24
./ Growth hormone
./ Normal karyotype W'@onSquares
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(i• 6) Klinefelter Syndrome XXV
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•!• Clinical features •!• Laboratory finding?
./ Low t estosteron e
./ Gynecomastia

AHMED HAMMOODI
" " 16
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•
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y ./
./
Tall stature
Small testes
Pediatric o n Gr:iuores ./ High FSH/ LH

•!• Increases risk of :

./ Micropenis ./ Pu lmonary disease
./ Varicose vain
./ Normal pubic and axillary hair
./ AD HD
./ Intellectual disability
./ Infertility •!• Increases risk of which
./ Behavioral problems Malignancies?
./ Breast cancer
The most common cause of primary ./ Testicular cancer
hypogonadism and infertility in
males •!• What is the most effective
treatment?
./ Testosterone rep lacement
Recurrence rate 1 - 2 %
therapy W @onSquares
 ⑨(can)
1) Fragile X Syndrome

•!• Clinical features •:• What is the most common cardiac

defect?

AHMED HAMMOODI
./ Long narrow face ../ Mitral valve prolapse
./ Prominent jaw
./ Big ears The most comm o n f orm of
./ Large hand and feet inherited intellectual disa bility
./ Macroorchidism But
./ Hyperextensible joints The 2 nd most common genetic
intellectual disability (after trisomy 21)
./ Intellectual disability
./ Behavioral problems (Autism, ADHD) •:• How to confirm the diagnosis?
./ Speech delay ./ Molecular genetic test for
./ Pes plan us (Flat foot) CGG allele repeat size

•:• Mode of inheritance? -55 •!• Can a female have fragile X syndrome?
~
../ X-linked dominant inheritance Ataxia ../ Yes, but milder sympto ms
../ > 200 CGG repeats in FMRl gene ../ Pre mature ovarian f ailure
 s) William Syndrome
•!• Mode of inheritance? •!• Laboratory finding ?

widres ./ Autosomal dominant ./ Hypercalcemia

AHMED HAMMOODI
./ Microdeletion 7q

•!• Most common cardiac defect ?

,/ Supravalvular aortic stenosis {80%}
•!• Clinical features ./ Peripheral pulmon ic st enosis
./ Long philtrum (Elfin face) *S ./ Pulmonary va lvular st enosis
./ Broad mouth.
./ Short nose with bulbous nasal •!•Eye problems ?
tip. ./ Stell at e irises
./ Cocktail personality ./ Strabismus Pedlotrlc on Squore9

./ Mental retardation
•!• The AAP recommends annual cardiology evaluations for
./ Joint laxity
patients with Williams syndrome.
W'@onsquares
 9)Alagille syndrome
-
=

•!• Clinical features Liver biopsy show

AHMED HAMMOODI
./ Triangular face with pointed chin
./ Long nose
./ Cholestatic jaundice
./ Posterior embryotoxon Paucity of
./ Butterfly vertebrae bile duct
•!• Mode of inheritance?
./ Autosomal dominant
./ 20p12 deletion Pediatric On Squares

========================= ---
=======
./ JAG 1 gene W'@onsquares •------
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-

•!• Most common cardiac defect? •!• ? Treatment

•!• Peripheral pulmonary artery stenosis I ./ Ursodeoxycho lic
acid (UDCA)
pulmonary valve stenosis ./ Liver transplant
 *D

( 10) Cri du chat syndrome

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vv •!• Clinical features

ri• u !J ,,J ./ High pitched (Cat's like) cry (larynx anatomical changes)

AHMED HAMMOODI
' ' • •• II

n(\ nb d 64 ./ Moon face with wide spaced eyes

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(\ ./ Down slanting palpebral fissures

v
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./ Microcephaly
-> termines
•!• Mode of inheritance? ./ Feeding difficulties Shost
./ De novo mutation ./ Intellectual disabilities G
./ Sp deletion ./ Failure to thrive Short
F W'@onSquares
Epetit
MROWI •!•Common cardiac defect ?
v'VSD, ASD, PDA & TOF
p, q
Pl)diotri c O.r1 SQUurO$
 11) Wolf Hirschhorn syndrome
•••• Clinical features:
C· _ , I-
.,/ M icrocepha ly

AHMED HAMMOODI
.,/ Hypertelorism
' 2 • •

tt tt ff• tt tt tt tt
.,/ Prominent glabella
.,/ Frontal bossing
• ' • 10 11 12
.,/ Greek helmet face
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.,/ Beaked nose
.,/ Hypotonia
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.,/ Seizures
.,/ Cardiac defect Pediotric On 9ouores

•!• Clinical features:

20 l1 y

•!• Mode of inheritance? ./ Diabet es insi pidus

./ De nova
./ Dia betes mellitus
./ Deletion of the short arm
./ Blindness
of chromosome 4
./ Deafn ess
•!• Laboratory finding ?
./ lgA deficiency W'@onSquares
 12) Rubinstein Taybi Syndrome
•!• Clinical features
./ Broad thumbs and great toes

AHMED HAMMOODI
./ Prominent nasal septum, beaked nose
./ Microcephaly
./ Large nails
./ Long eyelashes
./ Spinal cord tethering
./ Cardiac defect
./ Growth & mental retardation

•!• Mode of inheritance? •!• What is the most common

./ Autosomal do minant cardiac defect?
./ M icrodeletion 16q ./ Ventricular septa ! defect (VSD)

& CAUTION!!
Rubinstein taybi syndrome have an increase risk of
complications from anesthesia
 13) DiGeorge syndrome (Velocardiofacial syndrome)

Clinical features (CATCH 22)

AHMED HAMMOODI
../ Ca rdiac defect
../ Abnormal face (Hooded eye lids, ptosis, hypoplasia of auricles)
../ Thymi c hypop lasia (T cell abnormalit ies)
../ Cleft pa late
../ Pa rathyroid aplasia / hypoplasia ↓ Hypocalcemia &
../ Hypernasa l speech (Velopharyngeal incompetence)
../ Hypoton ia in infancy
../ Learning disabilities & behaviora l problems W'@onsquares

•!• Common cardiac defect? •!• Laboratory finding?

./ Interrupted aortic arch
../ Hypocalcemia
./ Truncus arteriosus
•!• Other names ? ../ Low PTH
./ Tetra logy of Fallot
../ 22q11.2 deletion sy ndrom ../ Low lgG
./ VSD
../ Shprintzen syndrome Pedlo1ric an

•!• It is the MOST COMMON : •!• Which vaccine should be avoided ?

•!• Mode of inheritance? ./ Microdeletion syndrome ./ live attenuated vaccine if
../ Autosoma l dominant ./ T-Cell disorder immunodeficient
 EDW
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14)Angelman syndrome
•!• Clinical features: •!• Which medication
./ Jerky ataxic movement "Happy puppet" should be avoided in

AHMED HAMMOODI
./ Inappropriate bouts of laughter seizure treatment?
./ Excitable with hand flapping movement ./ Carbamazepine
./ Hypotonia ./ Viga batri n
./
./
Fair hair
-

Seizure
- sacSAR I -

./ Microcephaly
- #H
./ Severe Intellectual disabilities
=

./ Speech delay
./ Abnormal creases
p·edlorrlc On Squares
./ Small and separated teeth • @OnSquares

•!• Mode of inheritance?

./ Sporadic
./ Maternal derived deletion 15q11-13
Pateral UPD * A
./ Maternal
-
 1s) Prader Willi Syndrome {PWS)
•!• Clinical features in infancy It is the most common
./ Hypotonia

AHMED HAMMOODI
syndromic form of obesity
./ feeding problems
•!• Clinical features in childhood
•!• Which medication had
./ Hyperphagia

relin
FDA approval to be used
./ Central obesity
with PWS?
./ Hypogonadism
w ./' Growth hormone
./ Short stature
./ Small hand and feet therapy
./ Mild intellectual disability
./ Almond-shaped eyes •!• Why they develop short
Pediatric On Squares
./ Behavioral disorder @OnSquares
stature, central obesity
& hypogonadism ?
•!• Mode of inheritance? ./ Secondary to
./ Sporadic Hypothalamic and
./ Paternal derived deletion lSqll-13 (80%) pituitary dysfunction
./ Maternal UPD (20%)
 16) Beckwith-Wiedemann syndrome

•!• Clinical features •!• Mode of inheritance?

./ Sporadic
../ Large for gestational age

AHMED HAMMOODI
./ Autosomal dominant
../ Macroglossia ./ 15q11 deletion
../ Omphalocele
../ Ear lobe creases •!• Increases risk of which
../ Posterior auricular pits Malignancies ?
../ Hemihypertrophy ./ Wilms tumor
../ Cryptorchidism ./ Hepatoblastoma
../ Umb i Ii ca I hernia """'""'cons"""'""
../ Normal intelligence •!• Clinic follow up?
./ Abdominal US
•!• Laboratory finding ? • Q3 months until 4 Y.O
./ Hypoglycemia ./ Alpha fetoprotein
./ Hyperinsulinism • Q3 months until 4 Y.O
./ Renal US
Due pancreatic islet
hyperplasia • Q3 months from 4-7 Y.O
W @onSquares
11) Bardet-Biedl syndrome (Laurence-Moon-Biedl syndrome)

•!•Clinical features •!•Mode of

inheritance?

AHMED HAMMOODI
./ Obesity
./ Autosomal
./ Postaxial polydactyly •
recessive
./ Hypogonadism
./ Retinitis pigmentosa
./ Rod-cone dystrophy •

./ Mental ret ardation

./ Polyuria and polydipsia
./ Renal anomalies

•!• Most common gastrointestinal association?

v' Hirschsprung disease Pediotric On SQU OfBS

•!• What is the cause of polyuria and polydipsia?

./ Nephrogenic diabet es insi pidus
't#@OnSquares
 is) Sotos syndrome (cerebral gigantism)

•!•Clinical features •!•Radiological finding ?

./ Ventricu Iomega ly

AHMED HAMMOODI
./ Large for gestational age
./ Excessive growth in 1 st year of life
./ Large head, frontal prominence
./ Large hand and feet
./ Premature tooth eruption
./ Intellectual disability
./ Behavioral problems (Autism)
./ Seizure
./ Hypotonia
Pediatric On Squares
./ Monotone voice W'@onSquares

•!•Mode of •!• Increases risk of which •!• Prognosis

Malignancies 7 ,/ Norma l life expectancy
inheritance? ,/ Wilms tumor ,/ Developmenta l delay
./ Autosomal dominant ,/ Hepatic ca rcinoma
 19) Proteus Syndrome
•!• Clinical features
../ Macrodactyly

AHMED HAMMOODI
I ../ Hemihypert rophy
../ Skin changes (lipomas, vascu lar malformations,
co nnective t issue nevi, epidermal)
../ Scoliosis
../ Tissue hypertrop hy
../ Accelerated growth
../ Developm ental delay
../ Increase risk of malignan cies
Pedlotrlc an s quores

•••• What is Pathagnomic feature of Proteus syndrome?

../ Connective tissue nevi, m ainly "Cerebriform nevi"

•!• Mode of inheritance? •!• Increases risk of which

./ Sporadic Malignancies ?
../ Embryonic tumor
W @onSquares
 20) Achond roplasia
Clinical features

AHMED HAMMOODI
• Short stature below 3rd percentile.
• Rhizomelic Shorting (Short proximal long bones)
• Trident hands.
• Stenosis of foramen magnum .
• Macrocephaly.
• M idface hypoplasia
• Ice cream scoop shape femora l head .
• Squared-off iliac w ings (Champagne glass sign) .
•:• Mode of inheritance? • Increase risk of OSA & UAO.
• Delay in gross motor development . 'f#@OnSquares
./ Autosomal Dominant
./ Defect in FGFR-3
•!• Most common ca use of death?
•!• Clinic follow up ? ./ Craniocervical junction compression
./ Head circumference.
./ Hearing test annually. •!• Spinal X-ray specific finding ?
./ Polysomnography. ./ Narrowed interpeduncular distances
 21) Thanatophoric Dysplasia
Clinical features •!• Mode of inheritance?
./ Autosomal Dominant

AHMED HAMMOODI
• Rhizomelic Shorting
./ Defect in FGFR- 3
• Small chest
• Absent sciatic notch. •!• Most common cause of
• Platyspondyly (flattened vertebral bodies). death?
• French-telephone femurs. ./ Craniocervi cal junction
compression
• H-shaped vertebrae.
./ Pulmonary hypoplasia
• Cloverleaf skull (severe craniosynostosis).

•!•Types
• Type I
• Without cloverleaf skull
• Telephone receiver femur
• Type II
• With cloverleaf skull
• Straight femur
 22) Infantile cortical hyperostosis (Caffey Disease)
Clinical features •!• Mode of inheritance?

AHMED HAMMOODI
• Extreme irritability. "" Autosomal dominant
• Soft tissue swelling. "" COLlAl gene
• Fever.
• Anorexia. •!• Laboratory finding ?
• Cortical thickening of bones. "" Leukocytosis
• Pseudoparalysis "" Thrombocytosis
"" High ESR
Differential diagnosis "" High Alkaline phos phatase
• Osteomyelitis
• Hypervitaminosis A.
• Child abuse. •!• Prognosis
• Leukemia "" Self- limited condition
The bone changes typically "" Deformities of the
•!• Most common affected bone?
begin before six months of age involved bones.
and resolve by two years. "" Mandible
 •!• Common Types
23) Osteogenesis lmperfecta 1. Type I
• Most common
Clinical features • Mildest form
• Short stature •

AHMED HAMMOODI
Classic nondef ormi ng
• Scoliosis
• Hearing loss in 50%
• Blue sclera
2. Type II
• Dentinogenesis imperfecta
• Hyperextensible joints
• Most severe

• Easy bruising. • Death during newborn

Wormian bones (small, irregular 3. Type Il l
bones along the cranial sutures) • Progressive deforming
• Codfish vertebrae • Hydrocephalus
• Flared metaphysis (popcorn-like) 4. Type IV
• Normal sclera
• Ti bia l bowing (hallmark)
•!• Mode of inheritance?
./AD (I - IV) •!• Laboratory finding ?
./ AR (rare t ypes + llB) v" High alkaline phosphatase
v" Hypercalciuria
./ COLlAl gene
 24) Marfan Syndrome
Clinical features •!• Mode of inheritance? •!• Monitoring?
./ Autosoma l dominant ./ Annua l
Major crite ria:

AHMED HAMMOODI
./ FBNl ge ne echocardiogram .
./ Ectopia lentis .
./ Aortic dilatation or dissection .
./ Family history
Systematic score features :
How to confirm the diagnosis?
Wrist ANO thumb sign 3 Ghent criteria
Wrist 0 Rthumb sign 1 • 2 major crite ria
Pectus carinatum deformity 2
Pacius excavatum or chest asymmetry 1 • 1 major+ FBNl gene mutation
Hindfoot deformity 2
Pes planus 1
• 1 major + > 7 more systematic score Pediatric on squares

Pneumothorax 2
W°@OnSquares
Dural ectasia 2
Protrusio acetabuli 2 •!• Most common cardiac defect ?
Reduced upper segment/lower segment ratio 1
ANO increased arm/height ratio ANO no ./ Mitral valve prolapse
severe scoliosis
Scoliosis or thoracolumbar kyphosis 1 ./ Aortic root dilatation
Reduced elbow extension 1
Fa cial features (3/5): dolichocephaly, enoph-
•!• Most common cau se of death ?
1
thalmos, downslanting palpebral fissures,
malar hypoplasia, retrognathia
Skin striae 1 ./ Cardiovascular complications
Myopia >3 diopters
./ Rupture aortic root dilatation
Mitral valve prolapse 1
2s) Ehlers-Danlos syndromes (EDS)
THE BEIGHTON SCORE •••
• Mode of inheritance?
Clinical features How to Assess Joint Hypermobility ,/ Autosomal dominant

AHMED HAMMOODI
A oomencal mobdity score of 0 to 9, one point
Generalized joint alJocated for the ability to each of the ,/ Rarely AR
follovnng tests:
hypermobility
Hyperextensible skin . P\111 little hnger bock •••
• Most common cardiac
Fragile skin. beyond90°
(one point for each side)
defect?
./ M itra! valve prolapse
Increased bruising
./ Aortic root dilatation
Velvety skin Pull thumb back to
tOLKh rorearm

Kyphoscoliosis (one point for each side)

•••• Laboratory finding
Swan-neck malformation Bend elbow backwards
beyond10°
include normal
(one point for each side) coagulation expect ?
Piezogenic papules
./ Capillary fragility test
Gorlin 's sig n Bend backwards
Cigarette paper scar beyond10°
(one point for each side) •••• Monitoring?
Fish mouth appearance ,/ Annual
of skin tears. Lie hands flat on floor
while keeping knees echocard iogram.
Hypoton ia straight and bending
forward at .vaist
1

•••
• Most severe type?
Pediatri c On Squares A positive Beighton score for adultS is >out of the ,/ Vascular (vEDS; EDS
9 possible potnts; for children, a positive score IS
- "@OnSquares type IV)
•• least 6 O<Jt of 9 points.
26) Treacher Collins Syndrome (Mandibulofacial Dysostosis)
Clinical features •!• Mode of inheritance?
./ Autosomal dominant

AHMED HAMMOODI
./ Zygomatic and mandibular bone hypoplasia
./ Eyelid colobomas ./ TCOFl gene
./ Sparse eye lashes
•!• Clinic follow up ?
./ Microretrognathia
./ Vision assessment
./ Choanal atresia
./ Hearing assessment
./ Microtia
./ Feeding difficulties
./ Conductive hearing loss
./ Speech therapy
./ Cleft lip I palate Ped iatric On Squar e s

't#@OnSquares ./ Ps chosocial thera

•!•Most common neonatal problem?
./ Airway difficulties

•!• What is the level of intelligence ?

./ Normal
21) Goldenhar syndrome (oculo-auriculo-vertebral spectrum)
Clinical features
,/ Facial asymmetry (hemifacial macrosomia)

AHMED HAMMOODI
,/ Microtia
,/ Preauricular tags
,/ Microphthalmia
,/ Limbal (Epibulbar) dermoid (Pathagnomic)
.., 7
,/ Eyelid coloboma
,/ Facial nerve involvement leads to hypoplasia of the
facial muscles.
,/ Hypoplasia or absence of the parotid gland.
,/ Vetebral anomalies (Hemivertebrae)
,/ Cardiac defect (VSD)

•!• Mode of inheritance?

./ Sporadic
./ Abnormal 1 st and 2 nd brachia I arches
 2s) Branchio-oto-renal (BOR) syndrome

Clinical features •!• Mode of inheritance?

v' Autosomal dominant
./ Branchial cleft fistulas I cysts

AHMED HAMMOODI
./ Preauricular pits I tags •!• Laboratory finding?
./ Renal aplasia / hypoplasia •edl••"c••Gouo•.. v' Low renin
ricular tag
./ Sensory I conductive hearing loss v' Low aldosterone
v' Hyperkalemia
./ Pulmonary hypoplasia
v' Hyperchloremia
Ma· or criteria v' Metabolic acidosis
Deafness
Preauricul ar iis
Renal ano n1a lies
Minor criter ia
External ear a no 1na Iies
tvl idclle ear ano1nalies
Inner ear ano n1a li es

O thers: Facial as n1111etry. la latal a bnorinalities

Three inajor or t\vo 1najor and t\VO n1in or criteria
are rec1uired fo r a di agnosis of Branchio-oto-
rena l syndro n1e. ln those \Vith an affected f1rst-
degree relative \Vith BO R syndro n1e. one 1najor
criterio n is suffi cient for di a nosis. ares
29) Pierre Robin sequence {Pierre Robin syndrome)

Clinical features

AHMED HAMMOODI
./ Mandibular hypoplasia
./ Micrognathia
./ Glossoptosis (backwarddisplacementofthetongue)
./ U shaped cleft palate
./ Bi rd Ii ke facia I app ea ranee .
./ Upper airway obstruction Pediatric On Sauores

•!• Mode of inheritance? -#@OnSquares

./ De novo mutation
./ SOX9 gene

•!•Most common cause of death?

./Upper airway obstruction
 30) Stickler syndrome (hereditary arthroophthalmopathy)

AHMED HAMMOODI
Clinical features •!• Mode of inheritance?
../ Pierre Robin sequence+ ../ Autosomal dominant
../ Flat midface and nasal bridge
•!• What is the pathognomonic eye finding?
../Joint hypermobility ./ Vitreous gel anomaly
../Myopia
../ Sensorineural deafness •!•What is ophthalmic emergency associated
../ Cleft of the soft palate with stickler syndrome?
../ Arthritis Pediatric an SQUores

W @onsquares ./ Retinal detachment

 31) Waardenburg syndrome
I 7 I

Clinical features

AHMED HAMMOODI
./ White forelock
./ Square face Normal
""1'1 I
./ Thin nose, wide nasal bridge _,.-<r.

./ Dystopia canthorum Hypertelorism

./ Heterochromia
./ Sensorineural deafness
./ Skin depigmentation
Dystopia canthorum

•!• Mode of inheritance?

./ Autosomal dominant

•!• Most common gastrointestinal association?

./ Hirschsprung disease
32) A 1ert syndrome Other Craniosynostosis syndromes

•!• Clinical features •••

• Craniosynostosis syndromes
./ Complex synd act yly (m itten hand} 1. Ape rt syndro m e (Bicoronal suture)

AHMED HAMMOODI
./ Bicoronal craniosynostosis 2. Crou zon syndro me (Bicoronal sutu re}

./ M axillary hypoplasia 3. Carpe nte r syndro m e (M ultiple sutures)

4. Sae th re -Chot zen syndrome (Multiple sutures}
./ Exorbitism (Protruding ey e s)
5. Pfei ffer syndrome (Multiple sutures}
./ Hypertelorism
./ Midface hypoplasia •••
• Mode of inheritance?
./ Intellectual disability ./ All of them Autosomal dom ina nt except :
Pediatric On Squ ares
,/ Ca rpe nter syndrom e (Autosomal recessive}

•!• What is the most common dermatological

complication with Apert syndrome ? •••• Which craniosynostosis syndromes have normal intelligence?
,/ Cro u zon synd r o m e
./ Seve re acne v ulga ris

•••• Which craniosynostosis syndromes have normal hands?

,/ Cro u zon syndrome (No syndactyly}

•••
• Which craniosynostosis syndromes without hypertelorism?
./ Saethre-Chotzen syndro m e W @onsquares
 33) Cornelia de Lange Syndrome
•!•Mode of
•!•Clinical features inheritance?

AHMED HAMMOODI
./ Long eyelashes ./ Autosomal
./ Bushy and arched eyebrows dominant
./ Hirsutism
./ Low hairline •!• Most common
cardiac defect ?
./ Downward-turned mouth ./ Pulmonary stenosis
./ILJGR ./ VSD
./ ASD
./ Short stature ./ CoA
./ Thin upper lip
./ Micromelia
./ Lobster hand
t ./ Syndactyly
I ./ Ulnar dysplasia
./ Mental retardation
 34}Ataxia Telangiectasia
•:• Laboratory finding ?
•!•Clinical features ./ High serum alpha-

AHMED HAMMOODI
y"' Cerebellar ataxia fetoprotein (AFP)
y"' Ocu locutaneous t el a ngiect asia ./ High carcinoe m bryo ni c
• Bui ba r conjunctivae. antigen (CEA)
• Ears ,/ Low lgA, lgG & lgE
• Neck
• Cubit al fossae •:• What is the most consistent
y"' Recurrent infection laboratory abnormality?
y"' Increase ri sk of malignancy y"' High AFP

•!• Mode of inheritance? •!• Which part of immune system

y"' Autosomal recessive is impaired?
y"' ATM gene ./ Both cellular and humeral
immunity
y"' Due to chromosome instability

• Associated with increase sensitivity to ionizing radiation W @onsquares

 3s} Osler Weber Rendu Syndrome
(Hereditary hemorrhagic Telangiectasia)

AHMED HAMMOODI
•!• Clinical features Conjunctiva! finding in
Hereditary hemorrhagic
./ Te langiectasia (lips, gingiva, tongue, palate Telangiectasia (HHT}

vs
and palpebral conjunctiva)
./ Recurrent epistaxis (Night ti me)
./ Vascu lar malfo rmation (Lung, liver, GI & brain) Ataxia Telangiectasia (AT)

•!• Mode of inheritance?

./ Auto somal dominant AT
Bulbar

•!• Complications ?
./ lntracranial hemorrhage
./ Pulmonary hemorrhage
./ GI bleeding
Pediacric an squares

The most common cause of pulmonary

arteriovenous malformation W'@onsquares
 36) Bloom syndrome
•!• Clinical features •!• Increase risk of:
./ Malignancies

AHMED HAMMOODI
./ Cafe-au-lait spots
./ Photosensitive rash ./ Immunodeficiency
Pediatric on s1:1uores

./ Long narrow face

./ Prominent nose •!•Laboratory finding ?
./ IUGR ./ Low immunoglobulin level
./ Microcephaly ./ Lymphopenia
" @OnSquares
./ Short stature
./ Infertility •!• Most common cause of death?
./ Immune deficiency
,/Cancers
•!• Mode of inheritance? • Mainly leukemia
./ Autosomal recessive
./ Due to chromosome Avoid radiograph s
A instability Adequate sun protection
 ⑰
37) Neurofibromatosis type 1 (von Recklinghausen disease)
-

•!• Diagnostic criteria (> 2 of the following) •!• Mode of inheritance?

./ > 6 cafe-au-lait macules ../ AD (50%)

AHMED HAMMOODI
• > 5 mm in in prepubertal ../ De novo (50%)
• > 15 mm in in postpuberta l ../ NFl gene on
./ ;;:: 2 neurofibromas or 1 plexiform neurofibroma chromosome 17
./ Axillary or inguinal freckling (Crowe sign)
-
./ Optic glioma
./ > 2 iris hamartoma (Lisch nodules)
Do •!• Increases risk of :
./ Distinctive bony lesion: ../ Malignancies
• Sphenoid dysplasia, or ../ Prima ry HTN
Pediatric an SQUores

• Tibial pseudoarthrosis, or ../ Learn ing disabil ities

• Cortical thickening of the long bone ../ Seizures
./ A first-degree relative with NFl

•!• What is 1st manifestation typically appears ? •!• Follow up :

../ Cafe-au-lait m acules ../ Annua l vision exam
../ BP monitoring
•!• What is most common type of benign tumor in ../ Annual full physica l
NFl? examination
./ Neurofibromas W'@onsquares ../ Tumor surveillance
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