Agenesis of the corpus callosum associated with DiGeorge-velocardiofacial syndrome: A case report and review of the literature

We report a patient with clinical and cytogenetic findings consistent with DiGeorge-velocardiofacial syndrome and agenesis of the corpus callosum. Thi s patient represents the first report of a case of DiGeorge-velocardiofacia l syndrome associated with such a central nervous system abnormality. This case, together. with previous reports in the literature, suggests that stru ctural brain abnormalities, and in particular abnormalities of the corpus c allosum, are part of the complex syndrome associated with the chromosomal m icrodeletion 22q11.2. We suggest that the diagnosis of DiGeorge-velocardiof acial syndrome be entertained in patients with agenesis of the corpus callo sum in the context of other common clinical features of this syndrome.