BRAIN ANOMALIES IN VELO-CARDIO-FACIAL SYNDROME

Magnetic resonance imaging of tbe brain in 11 consecutively referred p atients with velo-cardio-facial syndrome (VCF) showed anomalies in nin e cases including small vermis, cysts adjacent to the frontal horns, a nd snail posterior fossa. Focal signal hyperintensities in the white m atter on long TR images were also noted. The nine patients showed a va riety of behavioral abnormalities including mild developmental delay, learning disabilities, and characteristic personality halts typical of this common multiple anomaly syndrome which has been related to a mic rodeletion at 22q11. Analysis of the behavioral findings showed no spe cific pattern related to the brain anomalies, and the patients with VC F who did not have detectable brain lesions also had behavioral abnorm alities consistent with VCF. The significance of the lesions is not ge t known, but the high prevalence of anomalies in this sample suggests that structural brain abnormalities are probably common in VCF. (C) 19 94 Wiley-Liss, Inc.