Robinson R O
Newcomen Centre, Guy's Hospital, London.
Dev Med Child Neurol. 1991 Nov;33(11):1010-2. doi: 10.1111/j.1469-8749.1991.tb14817.x.
Familial cases of schizencephaly hitherto have been associated with readily diagnosable metabolic conditions or malformation syndromes. Where such associations are absent, it is usually considered to be a sporadic event without a genetic contribution. Described here are a brother and sister with identical bilateral symmetrical schizencephaly. Genetic counselling must therefore allow for the possibility of an autosomal recessive form of this condition.
迄今为止，家族性脑裂畸形病例一直与易于诊断的代谢性疾病或畸形综合征相关。在不存在这种关联的情况下，通常认为这是一种无遗传因素的散发性事件。这里描述的是一对患有相同双侧对称性脑裂畸形的兄妹。因此，遗传咨询必须考虑到这种疾病存在常染色体隐性遗传形式的可能性。
