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DDx

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

  1. J.P.C. Peper

    J.P.C. Peper Bronze Member

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    What's your diagnosis?

    The patient also has square-shaped knees.

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

    DDx.jpg
     

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    J.P.C. Peper, Aug 26, 2012
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  2. faezekhademi

    faezekhademi Famous Member

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    patella-nail syndrome
     

    faezekhademi, Aug 26, 2012
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  3. shobitha

    shobitha Active member

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    nail-patella syndrome, autosomal dominant genetic disorder, is characterised by poorly developed fingernails, toe nails & patellae.
     

    shobitha, Aug 27, 2012
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  4. khaledsomc

    khaledsomc Young Member

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    patella-nail syndrome
     

    khaledsomc, Aug 27, 2012
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  5. dofus kamas

    dofus kamas Famous Member

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    patella-nail syndrome?
     

    dofus kamas, Aug 27, 2012
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  6. J.P.C. Peper

    J.P.C. Peper Bronze Member

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    Correct answer:

    Yes, it's nail-patella syndrome.

    Actually not such a good name, because other bone structures can be affected as well, e.g. the elbows and hips. The most common presentation however is the presence of underdeveloped nails and patellae. Inheritence is autosomal dominant.
     

    J.P.C. Peper, Aug 29, 2012
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