DDx

Discussion in 'Spot Diagnosis' started by J.P.C. Peper, Jun 3, 2012.

J.P.C. Peper Bronze Member

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What's your diagnosis?

I'll post the correct answer in a couple of days!

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J.P.C. Peper, Jun 3, 2012

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Pubudu_weerawardana likes this.
Gospodin Seki Moderator Staff Member

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Fragile X

Gospodin Seki, Jun 3, 2012

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Pubudu_weerawardana Famous Member

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Fragile X syndrome...... (-:

Pubudu_weerawardana, Jun 4, 2012

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Joseph28 Well-Known Member

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Fragile X

Joseph28, Jun 5, 2012

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J.P.C. Peper Bronze Member

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Correct answer:

Indeed, it's fragile X syndrome.

This boy has some of the chararcteristics, namely large protruding ears and a long face (he also has a high-arched palate, which is related to the long face). Other findings include mental retardation and macro-orchidism.

J.P.C. Peper, Jun 6, 2012

#5