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 is developmental disorder due to deletion of genes from long arm of chromosome 7.
- 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
- other symptoms – failure to gain weight appropriately in infancy and low muscle tone.
- 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.