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DDx

Discussion in 'Spot Diagnosis' started by J.P.C. Peper, Jun 24, 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 about three days!

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    J.P.C. Peper, Jun 24, 2012
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  2. Viktor Tyberkevych

    Viktor Tyberkevych Well-Known Member

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    beckwith wiedemann syndrome
     

    Viktor Tyberkevych, Jun 24, 2012
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  3. Gospodin Seki

    Gospodin Seki Moderator Staff Member

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    Beckwith Wiedemann syndrome
     

    Gospodin Seki, Jun 26, 2012
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  4. J.P.C. Peper

    J.P.C. Peper Bronze Member

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    Correct answer:

    Yes, it's Beckwith-Wiedemann syndrome.

    A genetic condition caused by a mutation in chromosome 11. Classic signs include exomphalos, macroglossia and gigantism; therefore it's sometimes also referred to as EMG-syndrome. Other possible findings include ear pits (or ear creases) and organomegaly.
     

    J.P.C. Peper, Jun 27, 2012
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