title: Cortical dysgenesis in 2 patients with chromosome 22q11 deletion.
abstract: Two patients with chromosome 22q11 deletion and cortical dysgenesis (gyral abnormalities) are reported in this study. One had unilateral clubfoot in addition to multiple features suggestive of the Di George syndrome (DGS), and the other presented with leg asymmetry and seizures, with subsequent recognition of the velo-cardio-facial syndrome (VCFS). In each patient, gyral abnormalities were identified in the hemisphere contralateral to the limb abnormality. A wide range of central nervous system abnormalities have been reported in DGS and VCFS, including three prior reports of gyral abnormalities (lissencephaly, microgyria). The 2 patients reported herein strengthen the association between the 22q11 deletion spectrum and cortical dysgenesis, but the underlying pathogenetic mechanism (primary neural migration vs. vascular disruption) remains unclear.
authors.affiliation: Children's Hospital and Health Center, Department of Pediatrics, University of California, San Diego 92123, USA. lynnembird@aol.com
authors.forename: L M
authors.initials: LM
authors.lastname: Bird
authors.forename: P
authors.initials: P
authors.lastname: Scambler
mesh_terms: D000328:Adult; D015139:Blotting, Southern; D002540:Cerebral Cortex / Q000002:abnormalities* / Q000000981:diagnostic imaging; D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D010641:Phenotype; D014057:Tomography, X-Ray Computed