Prader-Willi Habitus, Osteopenia, And Camptodactyly

Urban et al. (1979) described 2 brothers, aged 19 years and 9 months and 16 years and 8 months, with a previously undescribed condition characterized by genital anomalies, mental retardation, obesity, contractures of fingers, and osteoporosis. Pagnan and Gollop (1988) described a 12-year-old boy with a similar phenotype. The parents were nonconsanguineous. Both the fingers and the toes showed camptodactyly. In addition to osteopenia, the bones of the hands and feet showed tubulation defects and large epiphyses.