Osteoporosis And Oculocutaneous Hypopigmentation Syndrome

Hernandez et al. (1996) described an 8-year-old boy with generalized osteoporosis and oculocutaneous hypopigmentation syndrome (OOCH) without cerebral defects. The child was born of a 47-year-old father and 20-year-old mother, both of Mexican extraction, who denied consanguinity. There was no family history of albinism or hearing difficulties. Psychomotor development was normal. Differences from the Cross syndrome (257800) and Preus syndrome (257790) were the lack of cerebral abnormality and the presence of osteoporosis.