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.