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Old 05-01-2012
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Question Match these Congenital Syndromes!

Q1. a newborn infant is noted to have microcephaly with sloping forehead,cutis aplasia on scalp, microphthalmia and cleft lip and palate. His echocardiogram demonstrates ASD, VSD and dextrocardia.

Q2, A 17-year boy has an unusual gait, large mouth with tongue protrusion , hypopigmentation with blonde hair and pale blue eyes and unprovoked bursts of laughter.

Q3. A 6-week old boy was small for his birth weight and had intrauterine growth retardation. He is microcephalic ,has rounded face , hypertelorism and epicanthal folds. his cry is high pitched.

Q4. A 3-day-old infant who was found to have anal atresia also has vertebral defects , a VSD , tracheo esophageal fistula , absent left kidney and shortened arms.

OPTIONS:
a. trisomy 13
b. cri du chat syndrome
c. angelmann synfrome
d. VATER
e. cornelia de lange syndrome
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Old 05-01-2012
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Q1 = a
Q2 = c
Q3 = b
Q4 = d
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Old 05-20-2012
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Quote:
Originally Posted by sheru217 View Post
q1. A newborn infant is noted to have microcephaly with sloping forehead,cutis aplasia on scalp, microphthalmia and cleft lip and palate. His echocardiogram demonstrates asd, vsd and dextrocardia. a

q2, a 17-year boy has an unusual gait, large mouth with tongue protrusion , hypopigmentation with blonde hair and pale blue eyes and unprovoked bursts of laughter. c

q3. A 6-week old boy was small for his birth weight and had intrauterine growth retardation. He is microcephalic ,has rounded face , hypertelorism and epicanthal folds. His cry is high pitched. b

q4. A 3-day-old infant who was found to have anal atresia also has vertebral defects , a vsd , tracheo esophageal fistula , absent left kidney and shortened arms. d

options:
A. Trisomy 13
b. Cri du chat syndrome
c. Angelmann synfrome
d. Vater
e. Cornelia de lange syndrome
q1=a
q2=c
q3=b
q4=d
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Old 05-20-2012
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Cornelia de Lange Syndrome (CdLS) often termed as Bushy Syndrome and also known as Amsterdam dwarfism, is a genetic disorder that can lead to severe developmental anomalies. It affects the physical and intellectual development of a child. Exact incidence is unknown, but it is estimated at 1 in 10,000 to 30,000.
Children with this syndrome are often found to have long eyelashes, bushy eyebrows and synophrys (joined eyebrows). Body hair can be excessive and affected individuals are often shorter than their immediate family members.
CdLS can give rise to its own array of complexities. Children with CdLS often suffer from gastrointestinal tract difficulties, particularly gastroesophageal reflux. Vomiting, intermittent poor appetite, constipation, diarrhea or gaseous distention are known to be a regularity in cases where the GE tract problems are acute. Symptoms may range from mild to severe.
CdLS may include behavior problems, including self-stimulation, aggression, self-injury or strong preference to a structured routine. Many children with CdLS exhibit autistic-like behaviors.
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Old 05-22-2012
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did u get this from Pretest?
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