A girl with G syndrome and agenesis of the corpus callosum.
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.
Neri
G
G
Istituto di Genetica Umana, Facoltà di Medicina A. Gemelli, U.C.S.C., Rome, Italy.
Genuardi
M
M
Natoli
G
G
Costa
P
P
Maggioni
G
G
D000015:Abnormalities, Multiple / Q000235:genetics*; D061085:Agenesis of Corpus Callosum; D001848:Bone Diseases, Developmental / Q000235:genetics*; D003337:Corpus Callosum / Q000000981:diagnostic imaging; D003680:Deglutition Disorders / Q000235:genetics*; D005260:Female; D006548:Hernia, Diaphragmatic / Q000235:genetics*; D006551:Hernia, Hiatal / Q000000981:diagnostic imaging / Q000235:genetics*; D006554:Hernia, Umbilical / Q000235:genetics*; D006801:Humans; D006972:Hypertelorism / Q000235:genetics*; D007223:Infant; D013577:Syndrome; D014057:Tomography, X-Ray Computed