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Eronen, M., Peippo, M., Hiippala, A., Raatikka, M., Arvio, M., Johansson, R. and Kähkönen, M. (2002) Cardiovascular manifestations in 75 patients with Williams syndrome. Journal of Medical Genetics, 39, 554-558. doi:10.1136/jmg.39.8.554

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• 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.