Diaphragmatic hernia as the first echographic sign in Apert syndrome.
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).
Witters
I
I
Department of Obstretrics and Gynaecology, University Hospital Gasthuisberg, Leuven, Belgium.
Devriendt
K
K
Moerman
P
P
van Hole
C
C
Fryns
J P
JP
D000168:Acrocephalosyndactylia / Q000150:complications / Q000000981:diagnostic imaging* / Q000235:genetics; D000328:Adult; D002478:Cells, Cultured; D004252:DNA Mutational Analysis; D005260:Female; D005347:Fibroblasts / Q000737:chemistry; D006548:Hernia, Diaphragmatic / Q000150:complications / Q000000981:diagnostic imaging*; D006801:Humans; D009154:Mutation; D011247:Pregnancy; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics; D051497:Receptor, Fibroblast Growth Factor, Type 2; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics; D016216:Ultrasonography, Prenatal
D017468:Receptors, Fibroblast Growth Factor; C496353:FGFR2 protein, human; D020794:Receptor Protein-Tyrosine Kinases; D051497:Receptor, Fibroblast Growth Factor, Type 2