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DDx

Discussion in 'Spot Diagnosis' started by J.P.C. Peper, May 21, 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 few days!

    DD.jpg
     

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  2. Gospodin Seki

    Gospodin Seki Moderator Staff Member

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    Cleidocranial Dysostosis
     

  3. victoriar002

    victoriar002 Well-Known Member

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    thought maybe Ehlers-Danlos syndromes, but is Cleidocranial Dysostosis
     

  4. J.P.C. Peper

    J.P.C. Peper Bronze Member

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    Correct answer:

    Yes, it's cleidocranial dysostosis (also cleidocranial dysplasia).

    In this hereditary disorder (autosomal dominant), the clavicles are either partly or completely absent. Other possible features are bossing of the forehead and non-erupting of teeth.
     

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