Witters I, Devriendt K, Moerman P, van Hole C, Fryns J P
Department of Obstretrics and Gynaecology, University Hospital Gasthuisberg, Leuven, Belgium.
Prenat Diagn. 2000 May;20(5):404-6.
We report left diaphragmatic hernia as the first presenting echographic sign in a malformed male fetus with Apert syndrome. Molecular studies confirmed the presence of a mutation in the FGFR2 gene (Ser 252 Trp).