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DDx

Discussion in 'Spot Diagnosis' started by J.P.C. Peper, May 26, 2012.

  1. J.P.C. Peper

    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!

    DDx.jpg
     

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  2. Rocket Queen

    Rocket Queen Super Moderator

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  3. J.P.C. Peper

    J.P.C. Peper Bronze Member

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    Correct answer:

    Progeria.

    A rare autosomal dominant disorder, caused by a mutation in the LMNA gene. The patients' subcutaneous fatty tissue disappaers and their growth stops extremely early; the average progeria patient is 100 cm long and 13 kg in weight. At the age of two, the characteristics of progeria are obvious; a relatively large skull (because the rest of the body doesn't grow as long) and an old looking face with the veins clearly visible (because the fatty tissue is gone).
     


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