Brain magnetic resonance imaging findings in the Opitz G/BBB syndrome: extension of the spectrum of midline brain anomalies

Am J Med Genet. 1993 Jul 1;46(6):706-11. doi: 10.1002/ajmg.1320460622.

Abstract

We report the brain magnetic resonance imaging findings in 4 patients with the Opitz BBB/G syndrome. The scans were assessed by subjective interpretation 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 atrophy and ventriculomegaly (3 patients), macro cisterna magna (3 patients), and a wide cavum septum pellucidum (1 patient). One patient had a normal scan. The demonstration of a wide cavum septum pellucidum extends 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 Opitz syndrome.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Brain / abnormalities*
  • Brain / diagnostic imaging
  • Child, Preschool
  • Female
  • Humans
  • Infant
  • Magnetic Resonance Imaging
  • Male
  • Radiography
  • Syndrome