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