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    DD Hipotiroid

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    mitra khairani
    1. Down syndrome patients typically have IQs between 20-80, with many around 45-55. About 1 in 3 have congenital heart disease, and generally have low muscle tone. They also commonly have too many red blood cells and increased risk of acute lymphoblastic leukemia after age 2. 2. Chondrodystrophy involves short limbs, with upper arms and thighs shorter than forearms and legs. Intelligence and sexual function are normal. 3. Hurler and Hunter syndromes both involve abnormal enzymes. Hurler syndrome causes enlarged liver and spleen, umbilical hernia, and curvature of the spine. Hunter syndrome involves the X chromosome and causes enlarged liver and spleen, clouded cor

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    DD Hipotiroid

    Uploaded by

    mitra khairani
    62 views2 pages
    1. Down syndrome patients typically have IQs between 20-80, with many around 45-55. About 1 in 3 have congenital heart disease, and generally have low muscle tone. They also commonly have too many red blood cells and increased risk of acute lymphoblastic leukemia after age 2. 2. Chondrodystrophy involves short limbs, with upper arms and thighs shorter than forearms and legs. Intelligence and sexual function are normal. 3. Hurler and Hunter syndromes both involve abnormal enzymes. Hurler syndrome causes enlarged liver and spleen, umbilical hernia, and curvature of the spine. Hunter syndrome involves the X chromosome and causes enlarged liver and spleen, clouded cor

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    1. Down syndrome patients typically have IQs between 20-80, with many around 45-55. About 1 in 3 have congenital heart disease, and generally have low muscle tone. They also commonly have too many red blood cells and increased risk of acute lymphoblastic leukemia after age 2. 2. Chondrodystrophy involves short limbs, with upper arms and thighs shorter than forearms and legs. Intelligence and sexual function are normal. 3. Hurler and Hunter syndromes both involve abnormal enzymes. Hurler syndrome causes enlarged liver and spleen, umbilical hernia, and curvature of the spine. Hunter syndrome involves the X chromosome and causes enlarged liver and spleen, clouded cor

    Copyright:

    © All Rights Reserved
    Download as PPTX, PDF, TXT or read online from Scribd
    Download as pptx, pdf, or txt
    62 views2 pages

    DD Hipotiroid

    Uploaded by

    mitra khairani
    1. Down syndrome patients typically have IQs between 20-80, with many around 45-55. About 1 in 3 have congenital heart disease, and generally have low muscle tone. They also commonly have too many red blood cells and increased risk of acute lymphoblastic leukemia after age 2. 2. Chondrodystrophy involves short limbs, with upper arms and thighs shorter than forearms and legs. Intelligence and sexual function are normal. 3. Hurler and Hunter syndromes both involve abnormal enzymes. Hurler syndrome causes enlarged liver and spleen, umbilical hernia, and curvature of the spine. Hunter syndrome involves the X chromosome and causes enlarged liver and spleen, clouded cor

    Copyright:

    © All Rights Reserved
    Download as PPTX, PDF, TXT or read online from Scribd
    Download as pptx, pdf, or txt
    of 2

    DD hipothyroid

    1. Down Syndrome
    - IQ = 20-80 (biasanya 45-55)
    - 1 dari 3 memiliki congenital heart disease
    - General Hipotonia
    - Polycythemia
    - + 2 thn biasanya akut lymphoblastic leukimia

    2. Chondrodystrophy
    - short-limb
    - upper arms & tights lebih pendek dari fore arm &
    legs
    - intelligence and sexual function are normal
    3. Hurler and Hunter Syndrome
    a. Hurler syndrome
    -kelainan alpha iduronidase
    -autosomal resesif
    -hepatosplenomegali
    -umbilical hernia
    -dorsalumbar gibbus

    b. Hunter syndrome
    -kelainan sulfoiduronidase sulfatase
    - x-linked resesif
    - hepatosplenomegali
    - corneal clouding
    - not gibbus

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