title: A new autosomal recessive syndrome of pachygyria.
abstract: Pachygyria is a rare development disorder resulting from impaired neuronal migration. Usually, it is a sporadic phenomenon, but rare dominant or autosomal recessive syndromes are known. This report describes a family in which the parents are first cousins and three of the siblings suffer from moderate mental retardation, pachygyria and strabismus. It is suggested that this is a distinct type of autosomal recessive pachygyria.
authors.affiliation: Child Developmental Center, Hasharon Hospital-Gold Medical Center, Petah-Tiqva, Israel.
authors.forename: R
authors.initials: R
authors.lastname: Straussberg
authors.forename: S
authors.initials: S
authors.lastname: Gross
authors.forename: J
authors.initials: J
authors.lastname: Amir
authors.forename: N
authors.initials: N
authors.lastname: Gadoth
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002465:Cell Movement; D002540:Cerebral Cortex / Q000196:embryology / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D004948:Esotropia / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D009474:Neurons / Q000473:pathology*; D012021:Reflex, Abnormal