Schizencephaly: case report of familial incidence.
Two half-siblings with schizencephaly are presented. They have the same mother who had a normal cerebral imaging study. Only one other kindred was found in which 2 siblings had this cerebral lesion. In the present patients, autosomal inheritance from the mother is possible, but other explanations should include familial, as well as genetic, factors. Family counseling should stress the sporadic nature of this entity but a recurrence in the same sibship is possible. Details of the clinical and magnetic resonance imaging studies are presented.
Hosley
M A
MA
Department of Neurology, University of Massachusetts Medical Center, Worcester 01655.
Abroms
I F
IF
Ragland
R L
RL
D000293:Adolescent; D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D002547:Cerebral Palsy / Q000175:diagnosis / Q000235:genetics*; D004292:Dominance, Cerebral / Q000235:genetics / Q000502:physiology; D004829:Epilepsy, Generalized / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006429:Hemiplegia / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D009460:Neurologic Examination; D014057:Tomography, X-Ray Computed