We report three neonates, one boy and two girls, born to an inbred Arab family who had cortical dysplasia, probably agyriapachygyria, 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.
ASJC Scopus subject areas
- Clinical Neurology