Agenesis of the corpus callosum in a mother and son |
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Authors: | D Inbar GJ Halpern R Weitz M Sadeh M Shohat |
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Affiliation: | Department of Pediatric Neurology, Hacettepe University, Hacettepe Children's Hospital, Ankara, Turkey. |
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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. |
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