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.
Highlights
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
We present a case of a two year old boy with WB-S and Tetralogy of Fallot, a very infrequent association
Around 75% - 80% of all patients have some kind of cardiovascular disorder with supravalvular aortic stenosis, supravalvular pulmonary stenosis and peripheral pulmonary stenosis accounting for the vast majority of them
Summary
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 with supravalvular aortic stenosis, supravalvular pulmonary stenosis and peripheral pulmonary stenosis accounting for the vast majority of them. We present a case of WB-S and Tetralogy of Fallot (TOF), a very infrequent association. Diagnosis was possible because of specific facial features, and not because of classic cardiovascular manifestations that usually appear within this syndrome
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