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Endocardial cushion defect in a patient with Crouzon syndrome carrying a mutation in the fibroblast growth factor receptor ( FGFR )‐2 gene
Author(s) -
Schulz C,
Kreß W,
Schömig A,
Wessely R
Publication year - 2007
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2007.00861.x
Subject(s) - crouzon syndrome , fibroblast growth factor receptor , fibroblast growth factor , fgf10 , mutation , fibroblast growth factor receptor 1 , atrioventricular cushions , medicine , endocrinology , fibroblast growth factor 23 , receptor , gene , cancer research , biology , genetics , anatomy , heart disease , craniosynostosis , parathyroid hormone , calcium
Crouzon syndrome is an autosomal dominant disorder caused by mutation in the fibroblast growth factor receptor ( FGFR )‐2 gene. Recent findings from animal studies imply a critical role for FGFs in the regulation of cardiac development including cardiac cushion proliferation and valvulogenesis. We report on a 36‐year‐old woman, who required surgical closure for an atrial septal defect, a clinical feature that has not been previously reported in other patients with Crouzon syndrome. The findings suggest that cardiac investigations are warranted in patients with a diagnosis of Crouzon syndrome.