title: Familial schizencephaly.
abstract: Schizencephaly is a brain malformation characterized by infolding of cortical gray matter along a hemispheric cleft near the primary cerebral fissures. Although the etiology is unknown, genetic counseling has not been advocated because of its sporadic occurrence. We describe a family with two affected siblings. Both cases were characterized by hemiparesis, lack of gestational or postnatal complications, and diagnostic radiologic findings. We raise the possibility of a genetic etiology in some cases of schizencephaly and suggest a re-examination of the need for genetic counseling.
authors.affiliation: Department of Psychiatry and Neurology, Tulane University Medical Center, New Orleans, LA 70112.
authors.forename: A C
authors.initials: AC
authors.lastname: Hilburger
authors.forename: J K
authors.initials: JK
authors.lastname: Willis
authors.forename: E
authors.initials: E
authors.lastname: Bouldin
authors.forename: A
authors.initials: A
authors.lastname: Henderson-Tilton
mesh_terms: D002540:Cerebral Cortex / Q000002:abnormalities* / Q000473:pathology; D002648:Child; D005260:Female; D030342:Genetic Diseases, Inborn / Q000473:pathology*; D006801:Humans; D008279:Magnetic Resonance Imaging