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Fragile X Syndrome

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

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Paediatrics


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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