Fragile X Syndrome
Date: Monday, September 13 @ 09:17:54 IST
Topic: Paediatrics
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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
mental retardation
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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Source of this Question: RxPG DNB 2004
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