Familial schizencephaly: further delineation of a rare disorder.
Open Access
- 1 March 1995
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 32 (3) , 242-244
- https://doi.org/10.1136/jmg.32.3.242
Abstract
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.Keywords
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