Case Reports
Diaphragmatic hernia as the first echographic sign in Apert syndrome
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Case Reports
Diaphragmatic hernia as the first echographic sign in Apert syndrome
Prenat Diagn.
2000 May.
Abstract
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).
Copyright 2000 John Wiley & Sons, Ltd.
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