BRAIN MAGNETIC-RESONANCE-IMAGING FINDINGS IN THE OPITZ G BBB SYNDROME- EXTENSION OF THE SPECTRUM OF MIDLINE BRAIN ANOMALIES/

We report the brain magnetic resonance imaging findings in 4 patients with the Opitz BBB/G syndrome. The scans were assessed by subjective i nterpretation and computerized image analysis. Findings noted in 3 of the 4 patients include hypoplasia or agenesis of the corpus callosum ( 3 patients), cerebellar vermal hypoplasia (2 patients), cortical atrop hy and ventriculomegaly (3 patients), macro cisterna magna (3 patients ), and a wide cavum septum pellucidum (1 patient). One patient had a n ormal scan. The demonstration of a wide cavum septum pellucidum extend s the spectrum of midline brain anomalies (ventral induction defects) reported in this condition. This study along with other recent reports suggests that midline brain anomalies may be frequent findings in Opi tz syndrome. (C) 1993 Wiley-Liss, Inc.