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Williams-Beuren syndrome: Usual face, unusual heart

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Author(s): Natalia Marin Huarte | Luis García-Guereta | Pablo Lapunzina

Journal: Open Journal of Genetics
ISSN 2162-4453

Volume: 03;
Issue: 01;
Start page: 79;
Date: 2013;
Original page

Keywords: Williams-Beuren Syndrome | Tetralogy of Fallot | Genetic Diagnosis

ABSTRACT
Williams-Beuren Syndrome (WB-S) occurs in approximately 1/7500 live births. It is characterized by typical facial features, congenital heart defects and mild mental retardation. Around 75% - 80% of all patients have some kind of cardiovascular disorder being supravalvular aortic stenosis and pulmonary artery stenosis the most frequent. This syndrome is due to a contiguous gene deletion (1- to 2-megabase deletion on the long arm of chromosome 7), including the entire elastin gene and 20 additional genes. We present a case of a two year old boy with WB-S and Tetralogy of Fallot, a very infrequent association. Diagnosis of WB-S could be made because of typical facial features. Characteristic WB-S deletion was present. Genetic study to rule out 22q11 deletion was also performed.

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