Williams syndrome

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

• craniofacial dysmorphism (e.g. elfin facies)
• oral abnormalities
• short stature (50% of cases)
• mild to moderate intellectual disability 
• supravalvular aortic stenosis
• pulmonary artery stenosis
• renal insufficiency
• hypercalcemia

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” .

Siehe auch:

• Hufeisenniere
• medulläre Nephrokalzinose
• Aortenstenose
• Mikrodeletionssyndrome

und weiter:

• Radioulnare Synostose
• Harnblasendivertikel
• dichte metaphysäre Bänder
• einseitige Nierenagenesie
• congenital proximal radioulnar synostosis
• hypercalcemia
• congenital aortic stenosis
• Arrhinenzephalie
• Gefäßverkalkungen
• thoracic aortic stenosis : differential diagnosis
• echogenic renal pyramids
• causes of urinary bladder diverticulae
• kongenitale Pulmonalstenose