Agenesis of the corpus callosum and limbic malformation in Apert's syndrome.

Abstract

To the Editor. —In the September 1987 issue of theArchives, de Leon et al 1 described a case of Apert's syndrome that was characterized most notably by agenesis of the corpus callosum (ACC) and limbic malformations. The subject of ACC is of particular interest to us, since we recently prepared an extensive review of 705 cases, the largest study ever published on this topic. To our knowledge, total or partial ACC is a characteristic feature of only three syndromes (ie, Aicardi's, Andermann's, and Shapiro's), and its frequent, but not universal, occurrence in Apert's syndrome should not be overstated. For example, ACC has been reported in at least 24 cases of fetal alcohol syndrome and nine cases of Dandy-Walker syndrome 2 ; yet to say either is characterized by ACC would be untrue. The presence of severe syndactyly in Apert's syndrome suggests that ACC, mental retardation, and limbic malformations are likely