title: Agenesis of the corpus callosum associated with DiGeorge-velocardiofacial syndrome: a case report and review of the literature.
abstract: We report a patient with clinical and cytogenetic findings consistent with DiGeorge-velocardiofacial syndrome and agenesis of the corpus callosum. This patient represents the first report of a case of DiGeorge-velocardiofacial syndrome associated with such a central nervous system abnormality. This case, together with previous reports in the literature, suggests that structural brain abnormalities, and in particular abnormalities of the corpus callosum, are part of the complex syndrome associated with the chromosomal microdeletion 22q11.2. We suggest that the diagnosis of DiGeorge-velocardiofacial syndrome be entertained in patients with agenesis of the corpus callosum in the context of other common clinical features of this syndrome.
authors.affiliation: Department of Pediatrics, Rainbow Babies' and Children's Hospital, University Hospitals of Cleveland, Ohio, USA.
authors.forename: N C
authors.initials: NC
authors.lastname: Kraynack
authors.forename: R W
authors.initials: RW
authors.lastname: Hostoffer
authors.forename: N H
authors.initials: NH
authors.lastname: Robin
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000276:immunology; D061085:Agenesis of Corpus Callosum; D001424:Bacterial Infections / Q000276:immunology; D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D003337:Corpus Callosum / Q000473:pathology; D003937:Diagnosis, Differential; D019066:Facies; D006330:Heart Defects, Congenital / Q000150:complications* / Q000235:genetics* / Q000276:immunology; D006801:Humans; D008607:Intellectual Disability; D008279:Magnetic Resonance Imaging; D008297:Male; D013577:Syndrome