A 4 year baby is having large face, large jaw, large ear and macro orchidism is
Correct Answer: Fragile X syndrome
Description: A child with large face large ears large jaw and macro orchidism has fragile X syndrome It is due to a fragile site in one of the distal long arm of chromosome Xq27.3 Reference: Nelson TB of pediatrics pg 411 edition 19.
Category:
Pediatrics
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