Williams-Beuren syndrome is a genetic disorder caused by hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23, including the elastin gene. The clinical picture includes facial dysmorphisms and disturbances in many internal organs. The kidney is affected by nephrocalcinosis and nephrolithiasis.
The incidence of Williams-Beuren syndrome is estimated at 1:10,000 live births.[Error: Macro 'ref' doesn't exist]
Dysmorphism | |
Facial dysmorphic feature include depressed nasal bridge, prominent epicanthal folds, anteverted nares, and prominent lips. |
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Nephrocalcinosis | |
Nephrocalcinosis and urolithiasis are the major renal symptoms of Williams-Beuren syndrome. |
1. |
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