Most reported familial cases of agenesis of the corpus callosum have f
ollowed either an autosomal recessive or an X-linked recessive pattern
of inheritance. To the best of our knowledge, there is only one previ
ous report of a family showing clear-cut autosomal dominant inheritanc
e. We present the second such family, among whom a mother and her son
had moderately severe coordination problems and low-normal intelligenc
e. We suggest that agenesis of the corpus callosum, when transmitted a
s an autosomal dominant trait, is clinically characterized by a relati
vely milder phenotype than that occurring when inheritance is either a
utosomal or X-linked recessive and may be more common than has been th
ought. (C) 1997 Wiley-Liss, Inc.