A girl with G syndrome and agenesis of the corpus callosum

G Neri; M Genuardi; G Natoli; P Costa; G Maggioni

doi:10.1002/ajmg.1320280204

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.

Authors

G Neri¹, M Genuardi, G Natoli, P Costa, G Maggioni

Affiliation

¹ Istituto di Genetica Umana, Facoltà di Medicina A. Gemelli, U.C.S.C., Rome, Italy.

PMID: 3425610
DOI: 10.1002/ajmg.1320280204

Abstract

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