Williams syndrome

Description

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


History

1961 Williams

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

Associated Persons


Alternative names

  • Williams-Beuren syndrome (WBS)

Controversies

  • Did they first describe or popularise or plagiarise?

References


eponymictionary CTA

eponymictionary

the names behind the name

Emergency physician MA (Oxon) MBChB (Edin) FACEM FFSEM with a passion for rugby; medical history; medical education; and asynchronous learning #FOAMed evangelist. Co-founder and CTO of Life in the Fast lane | Eponyms | Books |

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