Document Detail


Endocardial cushion defect in a patient with Crouzon syndrome carrying a mutation in the fibroblast growth factor receptor (FGFR)-2 gene.
MedLine Citation:
PMID:  17850625     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
C Schulz; W Kress; A Schömig; R Wessely
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Clinical genetics     Volume:  72     ISSN:  0009-9163     ISO Abbreviation:  Clin. Genet.     Publication Date:  2007 Oct 
Date Detail:
Created Date:  2007-09-13     Completed Date:  2007-11-07     Revised Date:  2012-06-05    
Medline Journal Info:
Nlm Unique ID:  0253664     Medline TA:  Clin Genet     Country:  Denmark    
Other Details:
Languages:  eng     Pagination:  305-7     Citation Subset:  IM    
Affiliation:
German Heart Center and 1st Department of Medicine, Klinikum rechts der Isar, University of Technology, Lazarettstrasse 36, 80636 Munich, Germany.
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MeSH Terms
Descriptor/Qualifier:
Adult
Cell Proliferation
Craniofacial Dysostosis / diagnosis,  genetics
Echocardiography / methods
Endocardial Cushion Defects / genetics*
Female
Gene Expression Regulation*
Genes, Dominant
Humans
Mutation*
Phenotype
Receptor, Fibroblast Growth Factor, Type 2 / genetics*
Syndrome
Chemical
Reg. No./Substance:
EC 2.7.10.1/FGFR2 protein, human; EC 2.7.10.1/Receptor, Fibroblast Growth Factor, Type 2

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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