Newborn with congenital abnormalities

An infant with congenital abnormalities was born to a 21-year old woman. Physical findings included a flat facial profile, slanted eyes, epicanthol folds, Brushfield spots, short nose, short neck, dysplastic ears, simian crease, incurving of the fifth digit (clinodactyly), a large protruding tongue, and a pronounced heart murmur. Cytogenetic studies demonstrated a female with trisomy 21 (47,XX,+21).

The correct answer is B. Down syndrome. There were a total of 11 responses. A breakdown of responses are inside the parentheses below.

The most likely diagnosis is:

A. Marfan syndrome (0)
B. Down syndrome (10)
C. Potter complex (0)
D. Klinefelter syndrome (0)
E. Turner syndrome (1)

(see results graphically)