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18 Cards in this Set

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A small for gestation infant is born to a 35 y.o. woman. The infant is noted at birth to have low-set and malformed ears, Inguinal hernias, Cleft lip and palate, and
Micrognathia. Also has clenched hands with overlapping digits, small palpebral fissures, Prominent occiput, Short sternum,
Cardiac defects (VSD, ASD, patent ductus arteriosus, or coartaction of the aorta
Trisomy 18 (Edward's Syndrome)
The most common features of this genetic disorder: Weak cry
Single umbilical artery
Micrognathia with small mouth and high arched palate
Clenched hand with overlapping of index finger over the 3rd finger
Simian crease
Rocker-bottom feet
Small pelvis
Short sternum
Trisomy 18 (Edward's Syndrome)
“A small-for-gestation age and dysmorphic newborn infant with microcephaly and sloping forehead, cutis aplasia (missing portion of the skin and hair) of the scalp, polydactyly, microphthalmia, and omphalocele.”

Also has holoprosencephaly, cleft lip/palate, postaxial polydactyly, flexed and overlapping fingers, coloboma, and cardiac defect (VSD, ASD, patent ductus arteriosus, dextrocardia)
Trisomy 13. The presence of cutis aplasia and poydactyly are strongly suggestive of trisomy 13 (Patau's Syndrome).
Common features of this genetic dz include:
Microcephaly with and sloping forehead
cutis aplasia of the scalp
Cardiac defect, esp. VSD
Single umbilical artery
Hypersensitivity to agents containing atropine or pilocarpine
Trisomy 13 (Patau's Syndrome)
Institutionalized male juvenile delinquent.
Has severe nodulocystic acne, mild pectus excavatum, large teeth, prominent glabella, and relatively long face and fingers.
Has poor fine motor skills (ie penmenship), an explosive temper, and a low IQ
Long asymmetrical ears
Increased length vs breadth of the hands, feet, and cranial vault
Mild pectus excavatum
By age 5-6 they tend to be taller than their peersand they begin displaying aggressive behavior
Have severe acne at puberty
47 XYY
A tall, thin 14 yo boy has still not yet entered puberty.
Has delayed speech development and does poorly in school.
Is very introverted and very immature for his age.
On examination, he has signs of breast development, and long (eunichoid) limbs with a decreased upper to lower segment ratio.
His testes are small and he has no evidence of pubertal development
Azoospermia is the rule
Mild metal retardation, eunichoid habitus, long arms and legs, and hypogonadism
47XYY (Klinefelter's Syndrome)
“A 15 yo girl with primary amenorrhea is noted to be well below the 5th percentile for height for her age. She has significant HTN. On examination she has low posterior hairline, prominent and low-set ears and excessive nuchal skin.”
Short stature, amenorrhea, excesive nuchal skin, low posterior hairline, broad chest with widely spaced, pinpoint nipples, cubitus valgus
(increased carrying angle of the arms), and coarctation of the aorta.
HTN is common possibly owing to renal abnormalities (horseshoe-shaped kidney).
45XO. Turner's Syndrome
“3 y.o. child has short stature, hypotonia, and a small head with a round face. She has epicanthal folds, hypertelorism, and seems to be rather sensitive to sounds. Most impressive is her persistent, loud, high-pitched cry."
The high-pitched cry, commonly likened to a cat, is caused by laryngeal maldevelopment and diminishes as the child gets older.
Cri-du-chat. Microdeletion in chromosome 5p.
"2 month old child was born with distinctive facies with microcephaly, ptosis, a beaked nose, and a low-lying philtrum. Has broad thimbs and large toes. “
Presents with low IQ, downturning of the palpebral fissures, hypoplasia of maxilla., broad thumbs and toes with radial angulation, low-set and often malformed auricles, microcephaly, short staure, and delayed osseous maturation.
Rubinstein-Taybi Syndrome (16p13-), a microdeletion sydrome
A very overweight 2 y.o. child presents to your office. As an infant, the baby did not move much and was floppy. The infant ate poorly and required tube feeds. During he first year of life, the child developed a voracious appetitie and began to become very obese yet did not grow very tall. The child has been slow in gaining his milestones and appears developmentally delayed.
Prader-Willi Syndrome (paternal 15q11-13)
Hypotonia in infancy followed by
Development of voracious appetite by 1 year of age
Small hands and feet
Microphallus (small penis)
Are mentally deficient
Prader-Willi Syndrome (paternal 15q11-13 microdeletion)
“A fair-haired, blue-eyed, mentally retarded 4 yo girl is prone to fits of uncontrollable laughter. She has a midface hypoplasia, prognathism (protruding jaw), an unusual gait, and a seizure disorder.”
Has inappropriate bursts of laugher,ataxia, hypopigmented irises, and developmental delay
Angelman syndrome (maternal 15q11-13)
“Happy Puppet Syndrome”
Mental retardation
Bursts of inappropriate laughter
Hypopigmentation of their irises
Large mouth with tongue protrusion
Ataxia and jerky arm movements
Angelman syndrome (maternal 15q11-13)
“Happy Puppet Syndrome”
A very friendly 3yo child is referred to you by his pediatric cariologist. He has supravalvular aortic stenosis and strabismus. He also has mental retardation, a very round face with full cheeks and lips, an anteverted nose, and a long philtrum.
Is associated with aortic stenosis, blue eyes, and cranial facial abnormalities.
Williams Syndrome (7q23-)
“Elfin Facies”
People with Williams syndrome
(have elfin facies) "usually have a small upturned nose, long philtrum (upper lip length), wide mouth, full lips, small chin, puffiness around the eyes, and a prominent "starburst" or white lacy pattern on the iris of the eyes."
Mild microcephally
Mental retardation
Blue eyes
Epicanthal folds and depressed nasal bridge
Supraclavicular aortic stenosis and peripheral pulmonary artery stenosis
Severe hypercalcemia
Williams Syndrome (7q23-)
“Elfin Facies”
Occurs when pharyngeal pounches 3 and 4 fail to differentiate into the thymus and parathyroid glands resulting in immunodefficiency and hypocalcemia and seizures (hypocalecmia related).
DiGeorge Syndrome (22q11-)
It is usually accompained by facial anomalies cardiovascular anomalies due to abnormal neural crest cell migration during the formation of the aortiocpulmonary septum.
Unusual facies: hypertelorism, down-turned palebral fissures, and short philtrum.
DiGeorge Syndrome (22q11-)
“A large 15 yo male p/w mental retardation, hyperactivity,
Is large in size,
Has a long face with prominent jaw and ears
A thickened nasal bridge extending toward the ip of the nose
Has a cardiac click suggestive of mitral valve prolapse
Has large testes.”
Fragile X Syndrome is ass. w/ the expansion of the Familial Mental Retardation 1 (FMR1) gene at chromosome Xp27.3