A girl with G syndrome and agenesis of the corpus callosum

Am J Med Genet. 1987 Oct;28(2):287-91. doi: 10.1002/ajmg.1320280204.


We report on a female patient with G syndrome. The clinical expression is relatively severe and includes 2 manifestations not previously reported, ie, agenesis of the corpus callosum and umbilical hernia. These new findings support the notion that there is a developmental defect of the midline as the basis of the G syndrome.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Agenesis of Corpus Callosum*
  • Bone Diseases, Developmental / genetics*
  • Corpus Callosum / diagnostic imaging
  • Deglutition Disorders / genetics*
  • Female
  • Hernia, Diaphragmatic / genetics*
  • Hernia, Hiatal / diagnostic imaging
  • Hernia, Hiatal / genetics*
  • Hernia, Umbilical / genetics*
  • Humans
  • Hypertelorism / genetics*
  • Infant
  • Syndrome
  • Tomography, X-Ray Computed