Williams-Beuren syndrome: Generalized disorder characterized by unusual facies, abnormal behavioral abilities, cardiovascular anomalies, especially supravalvular aortic stenosis (SVAS), renal and other abnormalities
Characteristic clinical findings. Facial features: Young children are often described as cute or pixielike, with a flat nasal bridge, short upturned nose, periorbital puffiness, long philtrum, and delicate chin; whereas older patients have slightly coarse features, with full lips, a wide smile, and a full nasal tip
Genetic disorder: hemizygous chromosomal deletion at 7.q11.23. A chromosome region of 1.5-1.8 millionbase pairs containing 26 – 28 genes,involved in microdeletion / contiguous gene deletion
The presence of supravalvular aortic stenosis in mentally retarded patients with the unusual facial features here detailed may constitute a syndrome that has not previously been described.Williams 1961
1962 Beuren also noted the association between supravalvular aortic stenosis and an unusual facies. In addition, he commented on the behavioral characteristics of the three children he described. “All have the same kind of friendly nature.”
1964 Beuren later paper detailed the association of peripheral pulmonary stenoses and typical dental anomalies
A series of 10 patients with supravalvular aortic stenosis and a similar facial appearance with mental retardation is described. The patients have identical dental malformations in addition, and 7 patients examined by right heart angiocardiography have multiple, bilateral peripheral pulmonary stenosis. The findings represent a new syndrome: supravalvular aortic stenosis, peripheral pulmonary stenosis, mental retardation, a certain facial appearance and complex dental malformations.Beuren 1964
- John Cyprian Phipps Williams (1922 – )
- Alois Beuren 1919–1984
- Williams-Beuren syndrome (WBS)
- Did they first describe or popularise or plagiarise?
- Williams JC, Barratt-Boyes BG, Lowe JB. Supravalvular aortic stenosis. Circulation. 1961; 24: 1311-8.
- Beuren AJ, Apitz J, Harmjanz D. Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance. Circulation. 1962;26:1235-1240.
- Eberle P, Beuren AJ. Chromosome studies in patients with supravalvular aortic stenosis. Lancet. 1963; 2(7305): 438
- Beuren AJ et al. The syndrome of supravalvular aortic stenosis, peripheral pulmonary stenosis, mental retardation and similar facial appearance. Am J Cardiol. 1964;13:471-483.
- Pober BR. Williams-Beuren syndrome. N Engl J Med. 2010; 362(3): 239-252. [published correction N Engl J Med. 2010; 362(22): 2142].
- Berdon WE, Clarkson PM, Teele RL. Williams-Beuren syndrome: historical aspects. Pediatr Radiol. 2011; 41(2): 262-266.
- Lenhoff HM, Teele RL, Clarkson PM, Berdon WE. John C. P. Williams of Williams-Beuren syndrome. Pediatr Radiol. 2011;41(2):267-269.
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