%0 Journal Article %T Williams-Beuren syndrome: Usual face, unusual heart %A Natalia Marin Huarte %A Luis Garc¨Şa-Guereta %A Pablo Lapunzina %J Open Journal of Genetics %P 79-81 %@ 2162-4461 %D 2013 %I Scientific Research Publishing %R 10.4236/ojgen.2013.31009 %X 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. %K Williams-Beuren Syndrome %K Tetralogy of Fallot %K Genetic Diagnosis %U http://www.scirp.org/journal/PaperInformation.aspx?PaperID=29389