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provisional diagnosis

Discussion in 'Spot Diagnosis' started by Egyptian Doctor, Feb 25, 2012.

  1. Egyptian Doctor

    Egyptian Doctor Moderator Verified Doctor

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    the patient is suffering from congenital heart defects, mental retardation and ectodermal abnormalities

    check the image and write your provisional diagnosis

    [Broken External Image]:http://www.positiveexposure.org/cfc/IMG_8190.jpg
     

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  2. dupuytren

    dupuytren Bronze Member

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    It could be a cardiofaciocutaneous syndrome, but also a DiGeorge Syndrome (if there are also hypocalcemia and immunodeficiency due to parathyroids and thymum aplasia)
     

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  3. kangourou

    kangourou Famous Member

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    cardiofaciocutaneous syndrome - in the picture we can see hypertelorism, absence of eyebrows, epicanthic folds. Congenital heart defects in this condition are usually pulmonic stenosis and hypertrophic cardiomyopathy.
     

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  4. dr.angela

    dr.angela Bronze Member

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    Fetal Alcohol Syndrome.
     

  5. Egyptian Doctor

    Egyptian Doctor Moderator Verified Doctor

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    Answer : Cardiofaciocutaneous Syndrome
     

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