Clinical Vignettes: Neoplasia and Developmental/Genetic Diseases
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 most likely diagnosis is:

    A. Marfan syndrome
    B. Down syndrome
    C. Potter complex
    D. Klinefelter syndrome
    E. Turner syndrome