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Spot Diagnosis

Discussion in 'Spot Diagnosis' started by Egyptian Doctor, Feb 7, 2013.

  1. Egyptian Doctor

    Egyptian Doctor Moderator Verified Doctor

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    What is your medical diagnosis for this case ?

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  2. neo_star

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    Bardet–Biedl syndrome

    the genitilia are hidden - if they are below 2 SD, then it confirms the diagnosis.
    sneaky:

    Prader Willi, Frohlich, Albright's hereditary osteodystrophy and Leptin resistance/deficiency syndromes don't have polydactyly as a defining feature and are thus ruled out.

    Cushingoid has characteristic centraal obesity - also ruled out.

    But hypothroidism needs to be ruled out as it could be compounding to the patient's woes.
     

    Last edited: Feb 7, 2013
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  3. Egyptian Doctor

    Egyptian Doctor Moderator Verified Doctor

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    Answer : Bardet–Biedl syndrome
     

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