Literature DB >> 1481839

Williams syndrome in adults.

E Lopez-Rangel1, M Maurice, B McGillivray, J M Friedman.   

Abstract

There are few published reports of adults with Williams syndrome (WS). We have evaluated ten adult WS patients. The patients in our study were very variable in clinical presentation, ranging from severely affected patients with complicated medical histories to mildly affected patients who are generally in good health. Cardiovascular anomalies and hypertension were frequent. Supravalvular aortic stenosis was seen in four patients, mitral valve prolapse in three, bicuspid aortic valve in one, valvular aortic stenosis in one, and pulmonary stenosis with right ventricular hypertrophy in one. Typical facial features included stellate irides, prominent cheeks, full lips, and micrognathia. Mental retardation was seen in all patients. Verbal skills were better developed than motor skills. All patients in our study lead active lives, and most are involved in sports. Some hold supervised jobs. Eight of our patients live with their parents and two in group homes. Independent living is restricted by their mental and adaptive limitations.

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Mesh:

Year:  1992        PMID: 1481839     DOI: 10.1002/ajmg.1320440605

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  7 in total

1.  De Lange syndrome: subjective and objective comparison of the classical and mild phenotypes.

Authors:  J E Allanson; R C Hennekam; M Ireland
Journal:  J Med Genet       Date:  1997-08       Impact factor: 6.318

2.  High prevalence of diabetes and pre-diabetes in adults with Williams syndrome.

Authors:  B R Pober; E Wang; S Caprio; K F Petersen; C Brandt; T Stanley; L R Osborne; J Dzuria; B Gulanski
Journal:  Am J Med Genet C Semin Med Genet       Date:  2010-05-15       Impact factor: 3.908

Review 3.  Williams-Beuren syndrome: computed tomography imaging review.

Authors:  Karuna M Das; Tarek S Momenah; Sven G Larsson; Shehla Jadoon; Abdullah S Aldosary; Edward Y Lee
Journal:  Pediatr Cardiol       Date:  2014-08-20       Impact factor: 1.655

4.  Williams-Beuren syndrome: phenotypic variability and deletions of chromosomes 7, 11, and 22 in a series of 52 patients.

Authors:  C A Joyce; B Zorich; S J Pike; J C Barber; N R Dennis
Journal:  J Med Genet       Date:  1996-12       Impact factor: 6.318

5.  Echocardiographic findings in patients with Williams-Beuren syndrome.

Authors:  Dora Scheiber; Gyorgy Fekete; Zoltan Urban; Ildiko Tarjan; Gergely Balaton; Lajos Kosa; Katalin Nagy; Zoltan Vajo
Journal:  Wien Klin Wochenschr       Date:  2006-09       Impact factor: 1.704

6.  Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth.

Authors:  L A Pérez Jurado; R Peoples; P Kaplan; B C Hamel; U Francke
Journal:  Am J Hum Genet       Date:  1996-10       Impact factor: 11.025

7.  Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers.

Authors:  Roberta Lelis Dutra; Patrícia de Campos Pieri; Ana Carolina Dias Teixeira; Rachel Sayuri Honjo; Debora Romeo Bertola; Chong Ae Kim
Journal:  Clinics (Sao Paulo)       Date:  2011       Impact factor: 2.365

  7 in total

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