History of the Williams Syndrome

Overview

History of the Williams syndrome (WS) represents a process of detailed analysis of phenotypic markers and ofattempts to reveal their origin. This demanding tasks have brought many valuable findings, which were employedin different fields of medicine, namely in cardiology, metabolism, genetics, psychology and cognitive neurosciences.Discovery of the genetic basis of the disease closed the first period of the syndrome analysis. Genetic studies havebeen proceeding and WS can be taken as a model syndrome for the behavioral genes identification. Similarly thedescription of the pathogenesis of vascular anomalies represents the key for understanding of the pathogenesis ofother, more common vascular diseases. The article brings the review of the history of the WS.

Key words:
Williams syndrome, idiopatic hypercalcemia, supravalvular stenosis, mental retardation, vitamin D.