Figure 1.

Clinical photographs. (a) Patient 1, (b) patient 2, (c) patient 3, and (d) patient 4. Note in patients 1 and 2 the upslanting palpebral fissures, large protuberant ears, broad nasal bridge, bulbous nasal tip, prominent tongue, and a broad chin. In patients 3 and 4 facial dysmorphism, consistent with the 17q21.31 microdeletion syndrome, includes long face, prominent ears, broadnasal bridge, bulbous nasal tip, and everted lower lip. Written consent to publish these images has been obtained.