3. Down syndrome
• A 1-year-old with facies suggestive of. Note
the facies and short fifth fingers and
clinodactyly.
• The muscle tone and growth parameters were
normal.
4.
5. del22q.11 and 1p31.1 microdeletion
• An 8-year-old with Patient is short in stature;has a
right aortic arch, sacral dimple, left cryptorchidism, and
global developmental and significant cognitive and
speech delays; and is not toilet trained.
• He had undergone surgical repair of the palate for
velopharyngeal incompetence.
• Note the low-set, cupped, and posteriorly rotated ears
and hypoplastic alae nasi.
• DiGeorge syndrome was diagnosed in utero by prenatal
fluorescence in situ hybridization (FISH) on amniocytes
6.
7. Williams syndrome in different patients
• Hallmark features include supravalvular aortic
• stenosis, hypercalcemia, friendly personality,
connective tissue abnormalities, and
characteristic facies.
• Note the periorbital fullness, epicanthal folds,
prominent lips, long philtrum, and stellate lacy
iris pattern.
• All cases with clinical features were confirmed
on (FISH) alone or microarrays.
8.
9. Amniotic band syndrome
• note the constriction ring at the ankle and
amputation of the toes, a sequela to the
amniotic bands.
10.
11. Down syndrome
• A, Characteristic facial features with up-slanting
palpebral fissures, epicanthal folds, and flat nasal
bridge.
• B, Brushfield spots.
• C, Bridged palmar crease, seen in some affected
infants. Two transverse palmar creases are
connected by a diagonal line.
• D, Wide space between first and second toes.
• E, Short fifth finger.
• F, Small ears and flat occiput.
12.
13. Trisomy 13
• A, Facies showing midline defect.
• B, Clenched hand with overlapping fingers.
• C, Postaxial polydactyly.
• D, Equinovarusdeformity.
• E, Typical punched-out scalp lesions of
aplasia cutis congenita.
14.
15. Trisomy 18
• A, Typical profile reveals prominent occiput
and low-set, posteriorly rotated malformed
auricles.
• B, Clenched hand showing typical pattern of
overlapping fingers.
• C, Rocker-bottom feet.
16.
17. Turner syndrome
• A, The low-set posterior hairline can be better
appreciated in this older child who also has
protruding ears.
• B, In this frontal view mild webbing of the neck
and small widely spaced nipples are evident,
along with a midline scar from prior cardiac
surgery. The ears are low set and prominent,
protruding forward.
• C and D, The newborn shown also had prominent
lymphedema of the hands and feet.
18.
19. Klinefelter syndrome
• A, Relatively narrow shoulders, increased
carrying angle of arms, female distribution of
pubic hair, and normal penis but with small
scrotum due to small testicular size.
• B, Small testes and penis.
• C, Gynecomastia.
20.
21. Beckwith-Wiedemann syndrome
• A,Note the macrosomia, macroglossia, and asymmetry with
hemihypertrophy and omphalocele and/or umbilical
hernia.
• Craniofacial features also include unusual ear creases.
• B, At 3 months of age; note the macroglossia, right facial
prominence, and ear creases.
• C, At 27 months of age; note the resolving umbilical hernia.
• The elevated α-fetoprotein (AFP) levels from infancy have
normalized. The patient has nephromegaly, and is under
surveillance for the detection of embryonal tumors by
serum AFP and abdominal and renal sonograms every 4
months.
• Chromosomes were normal male complement, 46,XY.
22.
23. X-linked recessive hypohidrotic
ectodermal dysplasia
• Classic presentation for features of at 1 to 20
months of age.
• At 1 month the infant was admitted to “rule
out sepsis” with high fever, but all the workup was
negative.
A, Note the thin, sparse, fine hair.
B, Severe hypodontia and anterior conical teeth.
C, Low nasal bridge, periorbital wrinkling, full
forehead, prominent lips, and prominent
supraorbital ridges.
24.
25. Incontinentia pigmenti syndrome
• A, At 7 weeks of age this patient manifested erythema,
and blisters on the trunk and extremities.
• Hyperkeratotic lesions have already started.
• This X-linked dominant condition is lethal in males.
One third of the patients have psychomotor delays,
microcephaly, and seizures, which were not observed
in this patient. Mutation(s) in the NEMO gene at Xq28
are encounteredin the majority of patients. By 5
months of age the rash was already resolving.
• B, Rash replaced with hyperpigmentation on the trunk
and pale hairless patches or streaks subsequently on
the lower limbs.
26.
27. Treacher Collins syndrome
• Note the down-slanted palpebralfissures,
malar hypoplasia, malformed auricle, and
mandibularhypoplasia.
• The mutation was identified as a single
sequence variation
28.
29. Sanjad-Sakati syndrome (SSS)
• Also known as hypoparathyroidism -
• intellectual disability-dysmorphism, is a rare multiple
congenital anomaly syndrome, mainly occurring in the
Middle East and the Arabian Gulf countries, characterized
by intrauterine growth restriction at birth, microcephaly,
congenital hypoparathyroidism (that can cause
hypocalcemic tetany or seizures in infancy), severe growth
retardation, typical facial features (long narrow face, deep-
set eyes, beaked nose, floppy and large ears, long philtrum,
thin lips and micrognathia), and mild to moderate
intellectual deficiency.
• Ocular findings (i.e. nanophthalmos, retinal vascular
tortuosity and corneal opacification/clouding)
30.
31. Marfan syndrome
• A and B, This young man has prominent
arachnodactyly of both fingers and toes. Note
the clubbing due to associate
cardiopulmonaryproblems and the flattening
of the arch of his foot.
• D, Significant kyphosis and joint contractures
Also note his long arms.
32.
33. Ehlers-Danlos syndrome—classic type
• A, Note the marked hyperextensibility of the
skin over this child’s arm.
• B, These widened atrophic scars have the thin
• papery texture that is characteristic of Ehlers-
Danlos syndrome.
• D, Hyperextensibility of the joints of the elbow
and fingers is seen as well.
34.
35. Type III osteogenesis imperfecta (OI)
• collagen screen results on skin
fibroblasts are consistent with type
III or type IV OI.
• The patient would not consider DNA
diagnosis.
• He is wheelchair bound but lives
independently.
36.
37. CHARGE association
• A, Note the short palpebral fissures and
ptosis; low-set, dysplastic ears; and small chin.
Choanal atresia necessitated tracheotomy.
• B, Another example of an infant with CHARGE
associationhas clinical features that include a
prominent forehead, hypertelorism, narrow
palpebral fissures, hypoplasia of the right
naris, low-set ears, and a cupid’s-bowmouth.
38.
39. VATER association
• (A) has facial features that are not
dysmorphic, but he has preaxial
polydactyly of the thumb
• (B), which was associated with radial
dysplasia.
40.
41. Cornelia de Lange syndrome
• A and B, Facial features seen in an infant
and an older child include finely arched
heavy eyebrows, long eyelashes, small
upturned nose, long smooth philtrum, and
cupid’s-bow mouth.
• C, Small hands, hypoplastic proximally
placed thumb, and short fifth finger with
mild clinodactyly
42.
43. Noonan syndrome
• Note the down-slanting palpebral fissures, ptosis,
and low-set posteriorly rotated ears.
Patient has bilateral simian creases
• cardiac surgeries for severe pulmonic stenosis and
atrial septal defect.
• She has short stature, developmental delays,
alternating esotropia, optic nerve cupping.
• unilateral pelvicaliectasis.
• A missense mutation in exon 3 of the PTPN11 gene
resulted in the classic features of Noonan syndrome.
44.
45. LEOPARD Syndrome
• A 10-year-old girl with LEOPARD syndrome.
LEOPARD is an acronym
• for the cardinal features: lentigines, ECG
conductionabnormalities, ocular
hypertelorism, pulmonic stenosis, abnormal
genitalia, retardation of growth, sensorineural
• deafness.
46.
47. Costello syndrome
• Note the macrocephaly, curly sparse hair,
short neck, and hypotonia.
• The patient had a tracheostomy and is
gastrostomy tube dependent,and has had
global delays with some communicationby
sign language at 4 years of age.
• Skin was very lax and soft and a somewhat
darker color for the family.
48.
49. Fetal alcohol syndrome
• Note the short palpebral fissure length,
mild ptosis, and long simple philtrum.
50.
51. Infant with Zellweger syndrome
• Note the hypotonia, failure to thrive,
and large forehead.
52.
53. Hurler syndrome
• A, The coarsening of facial features characteristic
of this disorder includes prominence of the
forehead, a flattened nasal bridge, a short broad
nose, and widening of the lips.
• Features appear puffy due to thickening of the
skin.
• B, Progressive joint stiffness and contractures
lead to clawing of the hand.
54.
55. Morquio syndrome
• A 5-year-old boy with Urine testing for
mucopolysaccharidosis (MPS) showed
elevated keratan sulfate.
56.
57. Menkes syndrome
• A and B, associatedwith seizures, hypotonia,
hypopigmentation,global delays, and low
serum copper and ceruloplasmin levels.
• DNA testing showed a splicing defect in the
ATP7A gene at Xq13.3 region, confirming the
clinical finding.
58.
59. Smith-Lemli-Opitz syndrome
• A, Note the anteverted nostrils, low-set ears,
small chin, and clenched Hand.
• B, Hypospadias,cryptorchidism, or
ambiguous genitalia as shown here may also
be seen.
60.
61. • A,Supernumerary. digit. This is the common
position for a sixth digit. The thin pedicle
distinguishesthis anomaly from true
polydactyly.
• B,True bilateral polydactyly. of the fifth toe is
seen in this infant.
• C, Syndactyly. This child demonstrates
bilateral fusion of the soft tissue between the
first and second toes.
62.
63. Cleft lip& palate
• Cleft lip. A prominent bilateral cleft lip with a
complete cleft palate is seen in an infant with
trisomy 13.
• The cleft extends from the soft to the hard
palate, exposing the nasal cavity.
64.
65. 22q11 syndrome
• Characteristic facial features:
• frontal (A) and lateral (B) views.
• Note the micrognathia;hypertelorism; low-
set, malformed ears; and smooth philtrum.
• Also note the midline scar from repair of a
cardiac defect.
66.
67. Noonan syndrome
• Note the widely spaced eyes, low-set ears,
webbing of the neck, shield chest, pectus, and
increased carrying angle of the arms.
68.
69. Williams syndrome
• Note the wide-set eyes, upturned nose,
large maxilla, prominent philtrum, and
pointed chin.
70.
71. Central maxillary incisor
• The presence of a single central maxillary
incisor should alert the clinician to
investigate the possibility of growth
hormone (GH) deficiency.
72.
73. McCune-Albright syndrome
• A, Irregular café-au-lait pigmentation over
right anterior chest, shoulder, and right arm.
• B, Polyostotic fibrous dysplasia.
• Multiple areas of fibrous dysplasia,most
commonly found in long bones and pelvis.
74.
75. Cushing syndrome
• A, Moon facies, clearly demonstrated,
should raise the diagnostic index of Cushing
syndrome.
• B, Buffalo hump. Excessive adipose tissue
over the lower cervical and upper thoracic
spine is characteristic of Cushing syndrome.
76.
77. Turner syndrome
• This girl exhibits characteristic features of
Turner syndrome including a webbed neck,
broad chest, marked cubitus valgus, and low-
set ears.
78.
79. Alagille syndrome
• Alagille syndrome. The child has intrahepatic
biliary hypoplasia, butterfly vertebrae, and
mild pulmonic stenosis.
80.
81. Newborn with prune-belly syndrome
• shows the characteristic wrinkled and
redundant skin covering the abdominalwall.
On palpation,no abdominal muscular tissue
or muscular tone could be detected.
82.
83. Ellis–van Creveld syndrome
• (A) ,Note the gingival frenula and natal teeth
• (B) multiple digits (polydactyly).
84.
85. Holt-Oram syndrome
• (A),Note the absence of the radius and
thumb. The associated cardiovascular
abnormality is an atrial septal defect.
• (B) Radiographic examination demonstrates
the absence of a radius shadow; the missing
thumb is apparent.
