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Psychiatry · Child and adolescent psychiatry: Williams syndrome
Sample itemA 6-year-old has elfin facies, is very friendly with strangers, speaks fluently, but has poor visuospatial skills and mild intellectual disability. Echocardiography shows supravalvular aortic stenosis. Which syndrome is this?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
D. Williams syndrome
Williams syndrome is caused by a deletion at 7q11.23 involving the elastin gene. It features elfin facies, supravalvular aortic stenosis, hypercalcaemia, mild intellectual disability with relatively good verbal ability, and an overly sociable personality.
Option by option
A. Noonan syndrome
Noonan syndrome has webbed neck, short stature and pulmonary valve stenosis.
B. Turner syndrome
Turner syndrome occurs in girls with short stature, webbed neck and coarctation of the aorta.
C. Down syndrome
Down syndrome has hypotonia, upslanting palpebral fissures and atrioventricular canal defects.
D. Williams syndrome (correct)
Correct. Elfin facies, supravalvular aortic stenosis and sociability define Williams syndrome.
Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.
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