TITLE:
Williams-Beuren syndrome: Usual face, unusual heart
AUTHORS:
Natalia Marin Huarte, Luis García-Guereta, Pablo Lapunzina
KEYWORDS:
Williams-Beuren Syndrome; Tetralogy of Fallot; Genetic Diagnosis
JOURNAL NAME:
Open Journal of Genetics,
Vol.3 No.1,
March
29,
2013
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.