title: Agenesis of the corpus callosum in a mother and son.
abstract: Most reported familial cases of agenesis of the corpus callosum have followed either an autosomal recessive or an X-linked recessive pattern of inheritance. To the best of our knowledge, there is only one previous report of a family showing clear-cut autosomal dominant inheritance. We present the second such family, among whom a mother and her son had moderately severe coordination problems and low-normal intelligence. We suggest that agenesis of the corpus callosum, when transmitted as an autosomal dominant trait, is clinically characterized by a relatively milder phenotype than that occurring when inheritance is either autosomal or X-linked recessive and may be more common than has been thought.
authors.affiliation: Child Development Unit, Schneider Children's Medical Center of Israel, Petah Tiqva.
authors.forename: D
authors.initials: D
authors.lastname: Inbar
authors.forename: G J
authors.initials: GJ
authors.lastname: Halpern
authors.forename: R
authors.initials: R
authors.lastname: Weitz
authors.forename: M
authors.initials: M
authors.lastname: Sadeh
authors.forename: M
authors.initials: M
authors.lastname: Shohat
mesh_terms: D000328:Adult; D061085:Agenesis of Corpus Callosum; D002675:Child, Preschool; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D010641:Phenotype