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Del Pasqua, A., Rinelli, G., Toscano, A., Iacobelli, R., Digilio, C., Marino, B., Saffirio, C., Mondillo, S., Pasquini, L., Sanders, S.P. and de Zorzi, A. (2009) New findings concerning cardiovascular manifestations emerging from long-term follow-up of 150 patients with the Williams-Beuren-Beuren syndrome. Cardiology in the Young, 19, 563-567. doi:10.1017/S1047951109990837

has been cited by the following article:

  • 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.