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Medicine Genetics 80014894

Williams 'syndrome is an autosomal dominant disorder characterized by all of the following features, except:

A
Hypercalcemia
B
Mental retardation
C
Subvalvular aortic stenosis
D
Elfin facies
High-Yield Explanation
Ans. C. Subvalvular aortic stenosisWilliam's syndrome or Idiopathic hypercalcemia of infancy is an autosomal dominant disorder characterized by multiple congenital developmental defects, including supravalvular aortic stenosis, mental retardation, and an elfin facies, in association with hypercalcemia due to abnormal sensitivity to vitamin D.

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