Q)A 11 year old boy with IQ of 50,has a long face with large
prominent ears and macro-orchidism.The most probable diagnosis is :
b)Fragile x syndrome
reference:Nelsons 16th edition (CD)
The main clinical manifestations of fragile X syndrome in affected males are
characteristic facial features, including
o long face,
o prominent jaw, and
o large prominent ears;
sterotyped behavior and speech
a)Klinefelter’s syndrome :
Individuals with Klinefelter syndrome are usually relatively tall.
They may have gynecomastia and secondary sex development may be delayed.
They usually have azoospermia and small testes.
b)Fragile x syndrome :explained above!
c)Turner’s syndrome :typically seen in females!
d)Beckwith syndrome :
a syndrome of intractable neonatal hypoglycemia occurring in infants
facial nevus flammeus,
a characteristic earlobe crease,
increased risk of tumors.
Hyperinsulinemia is characteristic.
The prognosis is poor.
Correct choice: (b) Fragile X syndrome
Remember: Fragile X syndrome is the most common form of inherited mental retardation in males.
Source of this Question: RxPG DNB 2004
Author : Dr. Rashmi Yadav
Publisher: Jaypee Brothers Medical Publishers, India
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