title: Agyria-pachygyria and agenesis of the corpus callosum: autosomal recessive inheritance with neonatal death.
abstract: We report three neonates, one boy and two girls, born to an inbred Arab family who had cortical dysplasia, probably agyria-pachygyria, and agenesis of the corpus callosum. All had asphyxia, intractable seizures, and increased muscle tone at birth and died in the neonatal period. Congenital microcephaly or dysmorphic features were absent. Cytogenetic abnormality, metabolic disorder, and intrauterine infection were excluded. These cases suggest a new cerebral dysgenesis syndrome with autosomal recessive inheritance.
authors.affiliation: Department of Pediatrics, Faculty of Medicine and Health Sciences, United Arab Emirates University, Al Ain.
authors.forename: L
authors.initials: L
authors.lastname: Sztriha
authors.forename: L
authors.initials: L
authors.lastname: Al-Gazali
authors.forename: A
authors.initials: A
authors.lastname: Dawodu
authors.forename: M
authors.initials: M
authors.lastname: Bakir
authors.forename: P
authors.initials: P
authors.lastname: Chandran
mesh_terms: D061085:Agenesis of Corpus Callosum; D002540:Cerebral Cortex / Q000002:abnormalities; D017809:Fatal Outcome; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree