Castle D J, Jenkins T, Shawinsky A A
Department of Human Genetics, School of Pathology of the South African Institute for Medical Research, Johannesburg.
S Afr Med J. 1989 Jul 1;76(1):35-6.
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.
本文描述了一名14岁女孩，她患有全身性色素减退、智力发育迟缓、异常运动和眼部异常。提示她是眼脑白化病的又一病例，这是一种罕见的常染色体隐性疾病。文中还提及了之前的类似病例。
