The oculocerebral syndrome in association with generalised hypopigmentation. A case report.
A 14-year-old girl with generalised hypopigmentation, mental retardation, abnormal movements, and ocular anomalies is described. It is suggested that she represents a further case of oculocerebral albinism, a rare autosomal recessive condition. Reference is made to previous similar cases.
Castle
D J
DJ
Department of Human Genetics, School of Pathology of the South African Institute for Medical Research, Johannesburg.
Jenkins
T
T
Shawinsky
A A
AA
D000293:Adolescent; D000417:Albinism; D005124:Eye Abnormalities; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000150:complications; D009069:Movement Disorders / Q000150:complications; D013577:Syndrome