Wednesday, December 14, 2016

A 7 year old with hyperextensible joints

A 7 year old boy is brought to you. He is intellectually disabled. On examination, you notice hyperextensible joints. Large hands, large feet, protruding ears, elongated face are also seen. The patients testes are large in size compared to his age. Diagnosis?

Marfans syndrome
Ehler Danlos syndrome
Fragile X syndrome
Friedreichs Ataxia

Answer below
It's Fragile X syndrome. Why isn't it's Marfans? Because Marfans has normal IQ.

Here are my notes + mnemonic for Fragile X syndrome.

Did you know?
Fragile X is the most common cause of inherited mental retardation.
It was the first trinucleotide repeat disorder to be recognized.

That's all!

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