Williams-Beuren syndrome: Usual face, unusual heart - Open Journal of Genetics

OJGen > Vol.3 No.1, March 2013

Williams-Beuren syndrome: Usual face, unusual heart ()

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DOI: 10.4236/ojgen.2013.31009 5,079 Downloads 8,189 Views Citations

Author(s)

Natalia Marin Huarte, Luis García-Guereta, Pablo Lapunzina

Affiliation(s)

Genetics Department, Universitary Hospital La Paz, Madrid, Spain.
Neonatology Department, Universitary Hospital La Paz, Madrid, Spain.
Pediatric Cardiology Department, Universitary Hospital La Paz, Madrid, Spain.

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.

KEYWORDS

Williams-Beuren Syndrome; Tetralogy of Fallot; Genetic Diagnosis

Share and Cite:

Huarte, N. , García-Guereta, L. and Lapunzina, P. (2013) Williams-Beuren syndrome: Usual face, unusual heart. Open Journal of Genetics, 3, 79-81. doi: 10.4236/ojgen.2013.31009.

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