Agenesis of the corpus callosum in a mother and son.
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.
Inbar
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Child Development Unit, Schneider Children's Medical Center of Israel, Petah Tiqva.
Halpern
G J
GJ
Weitz
R
R
Sadeh
M
M
Shohat
M
M
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