A 4 year baby is having large face, large jaw, large ear and macro orchidism is: (A) Mc Cuneal bright syndrome, (B) Down's syndrome, (C) Cri-du chat syndrome, (D) Fragile X syndrome
Answer is D. 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.