A 4-YEAR-OLD girl, the offspring of first cousins, was referred for evaluation of unusual appearance. She had a history of frequent upper respiratory tract infections. She was of normal intelligence. Her height, weight, and head circumference were all at the 50th percentile for age. The midface was hypoplastic, with depression of the nasal bridge. The nose was small and flat (Figure 1). The distal phalanges of the thumbs and fingers were short and broad. A grade 2-3/6 systolic murmur was heard over the entire thorax and parascapular areas.