Literature DB >> 6739228

[Williams-Beuren facies with mental retardation and tetralogy of Fallot].

C Pernot, A M Worms, F Marçon, P Admant.   

Abstract

The "elfin facies", described by Williams and Beuren, is usually associated, beside mental retardation, with a supravalvular aortic stenosis and, more broadly, with multiple arterial stenoses. Other types of cardiac defects were described in this context, but the case reported by the authors is the first one with a tetralogy of Fallot. The hypothesis of widerspread histodysplastic lesions is discussed: the process may be early enough to alter the morphogenesis of the cardiac conus and to produce, more lately, the classical stenotic lesions of the arterial wall.

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Year:  1984        PMID: 6739228

Source DB:  PubMed          Journal:  Pediatrie        ISSN: 0031-4021


  3 in total

Review 1.  Copy number variants at Williams-Beuren syndrome 7q11.23 region.

Authors:  Giuseppe Merla; Nicola Brunetti-Pierri; Lucia Micale; Carmela Fusco
Journal:  Hum Genet       Date:  2010-05-01       Impact factor: 4.132

2.  Spectrum of cardiovascular anomalies in Williams-Beuren syndrome.

Authors:  E Zalzstein; C A Moes; N N Musewe; R M Freedom
Journal:  Pediatr Cardiol       Date:  1991-10       Impact factor: 1.655

3.  Cardiovascular spectrum in Williams-Beuren syndrome: the Mexican experience in 40 patients.

Authors:  Jesús De Rubens Figueroa; Luz María Olivares Rodríguez; José Luis Pablos Hach; Victoria Del Castillo Ruíz; Héctor Osnaya Martínez
Journal:  Tex Heart Inst J       Date:  2008
  3 in total

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