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Williams Syndrome

Which one is not true?
a. 1 alpha hydroxylation in Kidney
b. 25 alpha hydroxylation in liver
c. In absence of Sunlight daily requirement of Vit D is 400-600 iu
d. Williams syndrome consists of precocious puberty, mental retardation & obesity

 

Correct answer: d

Williams Syndrome

  1. Williams syndrome is developmental disorder due to deletion of genes from long arm of chromosome 7.
  2. It is characterized by – distinctive elfin facial appearance, along with a low nasal bridge, developmental delay coupled with strong language skills; and cardiovascular problems, such as supravalvular aortic stenosis and transient hypercalcemia
  3. other symptoms – failure to gain weight appropriately in infancy and low muscle tone.
  4. Most individual with Williams syndrome are highly verbal and overly sociable, having what has been described as a “Cocktail party” type of personality, and exhibit a remarkable blend of cognitive strengths and weakness.

 

 

January 4, 2021

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