Author: drashmiyadav, Posted on Monday, September 13 @ 09:17:54 IST by RxPG  

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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 :

a)Klinefelter’s syndrome
b)Fragile x syndrome
c)Turner’s syndrome
d)Beckwith syndrome

reference:Nelsons 16th edition (CD)

Quality:spotter

Discussion:

The main clinical manifestations of fragile X syndrome in affected males are

macro-orchidism

large size

characteristic facial features, including

o long face,
o prominent jaw, and
o large prominent ears;

sterotyped behavior and speech

Explanation:

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
with macroglossia,
large size,
visceromegaly,
mild microcephaly,
omphalocele,
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.

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