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  1. #1
    IMG SURVIVOR's Avatar
    IMG SURVIVOR is offline Moderator 536 points
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    just to practice

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    A 6 year old boy presents with a progressive mental retardation. diminish visual acuity and deformity of the bones of his chest. The boy exhibits marked developmental delay. Two years ago he develope a DVT(deep vein Thrombobsis) of the left leg.

    PE = Phisical exam

    Fair skin, tall and thin with long limbs and abnormaly long fingers, mild mental retardation, malar flush, glaucome, cataracts and pectus carinatum.
    What is the mos likely Dx?
    A- Alport's Disease
    B- Klineltfelter
    C- Homocystinuria
    D-Ehlers-Danlons Syndrome
    Moderator: USMLE AND Residency Forums.

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    why even bother with the obvious. Just know where you are need it and where you can help the most.

  2. #2
    rose.82 is offline Junior Member 510 points
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    Hello ,

    The answer is C- Homocystinuria .

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