Nomenclature of Williams syndrome

August 16th, 2007
   

The first descriptions of WS were incomplete in that they reflected the chief complaint of the individual or the medical specialty of the observer. Thus, nephrologists and endocrinologists described “idiopathic infantile hypercalcemia” (IHC) and cardiologists reported “supravalvular aortic stenosis syndrome” (SASS).

Early reports also noted dysmorphic facial features which were thought to resemble elves of legend, and for a time, the term “Williams elfin facies syndrome” was used.

After the reports of Williams et al (1961) and Beuren et al (1962), the condition was called Williams syndrome in the United States and Williams-Beuren syndrome in Europe.


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