Affected patient presents with a facies
characterized by up-slanted palpebral fissures. Micrognathia associated with
a small, pointed chin, short nose, thin upper lip, long philtrum, and cleft
palate is found in some cases. The musculoskeletal findings show mainly
short, bowed femora and acetabular and sacral anomalies, resulting in a
short stature. All other bone lengths are within normal. Some of the other
features are hypoplasia of the penis, testes, and labia major and possible
renal abnormalities.