Cortical dysgenesis in 2 patients with chromosome 22q11 deletion

Two patients with chromosome 22q11 deletion and cortical dysgenesis (gyral abnormalities) are reported in this study. One had unilateral clubfoot in a ddition to multiple features suggestive of the Di George syndrome (DGS), an d the other presented with leg asymmetry and seizures, with subsequent reco gnition of the velo-cardio-facial syndrome (VCFS). In each patient, gyral a bnormalities were identified in the hemisphere contralateral to the limb ab normality. A wide range of central nervous system abnormalities have been r eported in DGS and VCFS, including three prior reports of gyral abnormaliti es (lissencephaly, microgyria). The 2 patients reported herein strengthen t he association between the 22q11 deletion spectrum and cortical dysgenesis, but the underlying pathogenetic mechanism (primary neural migration vs, va scular disruption) remains unclear.