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Sugayama, S.M., Moisés, R.L., Wag?nfur, J., Ikari, N.M., Abe, K.T., Leone, C., da Silva, C.A., Lopes Ferrari Chauffaille Mde, L. and Kim, C.A. (2003) Williams-Beuren syndrome: Cardiovascular abnormalities in 20 patients diagnosed with fluorescence in situ hybridization. Arquivos Brasileiros de Cardiologia, 81, 462-473. doi:10.1590/S0066-782X2003001300003

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.