Familial schizencephaly.
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.
Robinson
R O
RO
Newcomen Centre, Guy's Hospital, London.
D000293:Adolescent; D002540:Cerebral Cortex / Q000002:abnormalities* / Q000000981:diagnostic imaging; D004830:Epilepsy, Tonic-Clonic / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009128:Muscle Spasticity / Q000000981:diagnostic imaging / Q000235:genetics; D011782:Quadriplegia / Q000000981:diagnostic imaging / Q000235:genetics*; D014057:Tomography, X-Ray Computed