Haverkamp F, Zerres K, Ostertun B, Emons D, Lentze M J
Zentrum für Kinderheilkunde, Universität, Bonn, Germany.
J Med Genet. 1995 Mar;32(3):242-4. doi: 10.1136/jmg.32.3.242.
We report on two Somalian sibs with severe developmental retardation and spastic cerebral paresis. Both children have bilateral cerebral clefts in the Sylvian region with dilatation of the ventricles, absence of the septum pellucidum, and heterotopia. The diagnosis of familial schizencephaly was made. The occurrence of schizencephaly in two affected sibs supports a genetic basis for schizencephaly.
我们报告了两名患有严重发育迟缓及痉挛性脑瘫的索马里同胞。两名儿童在大脑外侧裂区域均有双侧脑裂,伴有脑室扩张、透明隔缺如及异位症。诊断为家族性脑裂畸形。两名患病同胞中出现脑裂畸形支持脑裂畸形存在遗传基础。