title: The oculocerebral syndrome in association with generalised hypopigmentation. A case report.
abstract: 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.
authors.affiliation: Department of Human Genetics, School of Pathology of the South African Institute for Medical Research, Johannesburg.
authors.forename: D J
authors.initials: DJ
authors.lastname: Castle
authors.forename: T
authors.initials: T
authors.lastname: Jenkins
authors.forename: A A
authors.initials: AA
authors.lastname: Shawinsky
mesh_terms: D000293:Adolescent; D000417:Albinism; D005124:Eye Abnormalities; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000150:complications; D009069:Movement Disorders / Q000150:complications; D013577:Syndrome