1992
DOI: 10.1002/ajmg.1320440605
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Williams syndrome in adults

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 ste… Show more

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Cited by 60 publications
(46 citation statements)
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“…Hypoplastic left heart syndrome, complete atrioventricular canal defect, Ebstein's anomaly, and partial or total anomalous pulmonary venous return. Tetralogy of Fallot, double-outlet right ventricle (Fernandes, et al, 2004), Williams syndrome (Lopez-Rangel et al, 1992), and Down syndrome (Weinhouse et al, 1995) are occasionally associated with bicuspid aortic valve disease. Shone's complex, which is defined by four cardiovascular defects (supravalvular mitral membrane, valvular mitral stenosis with a parachute mitral valve, subaortic stenosis, and aortic coarctation), is rare and forms another association in bicuspid aortic valve disease cases (Popescu et al, 2008).…”
Section: 5mentioning
confidence: 99%
“…Hypoplastic left heart syndrome, complete atrioventricular canal defect, Ebstein's anomaly, and partial or total anomalous pulmonary venous return. Tetralogy of Fallot, double-outlet right ventricle (Fernandes, et al, 2004), Williams syndrome (Lopez-Rangel et al, 1992), and Down syndrome (Weinhouse et al, 1995) are occasionally associated with bicuspid aortic valve disease. Shone's complex, which is defined by four cardiovascular defects (supravalvular mitral membrane, valvular mitral stenosis with a parachute mitral valve, subaortic stenosis, and aortic coarctation), is rare and forms another association in bicuspid aortic valve disease cases (Popescu et al, 2008).…”
Section: 5mentioning
confidence: 99%
“…The frequency of BAV in specimens with complete transposition of great arteries has been found to be only 1%. 53 Hypoplastic left heart syndrome, complete atrioventricular canal defect, Ebstein's anomaly, partial or total anomalous pulmonary venous return, tetralogy of Fallot, double-outlet right ventricle, 54 septal left ventricular diverticulum, 55 Williams syndrome, 56 Down syndrome 57 and annuloaortic ectasia 58 are occasionally associated with BAV. Shone's complex, which is defined by four cardiovascular defects including supravalvular mitral membrane, valvular mitral stenosis with a parachute mitral valve, subaortic stenosis and aortic coarctation, is a rare entity and forms another association in BAV cases.…”
Section: Congenital Heart Defectsmentioning
confidence: 99%
“…Almost every child with WBS shows the typical dysmorphic facies and although these features are often subtle, they tend to become more distinctive with advancing age [10].…”
Section: Introductionmentioning
confidence: 99%
“…Older children and adults have a more gaunt appearance of the face with a prominent supraorbital ridge and long neck [10]- [12].…”
Section: Introductionmentioning
confidence: 99%
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