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Diaphragmatic hernia as the first echographic sign in Apert syndrome
Author(s) -
Witters Ingrid,
Devriendt Koenraad,
Moerman Philippe,
van Hole Chris,
Fryns JeanPierre
Publication year - 2000
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/(sici)1097-0223(200005)20:5<404::aid-pd813>3.0.co;2-0
Subject(s) - apert syndrome , diaphragmatic hernia , sign (mathematics) , medicine , diaphragmatic breathing , hernia , anatomy , surgery , pathology , craniosynostosis , mathematical analysis , alternative medicine , mathematics
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.