Williams-Beuren-Syndrom

Williams syndrome (WS), sometimes called Williams-Beuren syndrome, is characterized by some or all of the following features:

Pathology

Genetics

A deletion of chromosome band 7 that encodes the elastin gene is thought to be present in ~95% of cases . It is predominantly a sporadic inheritance.

Williams syndrome is a rare cause of medullary nephrocalcinosis  and middle aortic syndrome .

History and etymology

Williams syndrome was first identified in 1961 by J C P (John Cyprian Phipps ) Williams (1922-fl.1970s), a New Zealander cardiologist, who was a rather eccentric individual. He was last seen alive in the mid 1970s in Salzburg in Austria. Interpol were unable to locate Dr Williams after a request from his sister and in 1988 the High Court of New Zealand decreed that he was “a missing person presumed to be dead from 1978” .

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