✦ LIBER ✦

Diaphragmatic hernia as the first echographic sign in Apert syndrome

✍ Scribed by Ingrid Witters; Koenraad Devriendt; Philippe Moerman; Chris van Hole; Jean-Pierre Fryns

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 180 KB
Volume: 20
Category: Article
ISSN: 0197-3851
DOI: 10.1002/(sici)1097-0223(200005)20:5<404::aid-pd813>3.0.co;2-0

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✦ Synopsis

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).