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  • Osteogenesis Imperfecta

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    Kiara Nurmathias
    63 Ansichten12 Seiten
    Osteogenesis imperfecta (OI) is a genetic disorder characterized by bones that break easily due to a defective synthesis of type I collagen. There are over 150 mutations that can occur in the genes that encode the alpha chains of type I collagen, procollagen alpha-1 and alpha-2, resulting in decreased bone density and strength. This makes the bones more brittle and prone to fractures at an early age or with minor stresses. OI ranges in severity from mild forms with few fractures to lethal forms apparent from birth or in early infancy with severe bone deformities.

    Originalbeschreibung:

    Osteogenesis imperfecta

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    Osteogenesis imperfecta (OI) is a genetic disorder characterized by bones that break easily due to a defective synthesis of type I collagen. There are over 150 mutations that can occur in the genes that encode the alpha chains of type I collagen, procollagen alpha-1 and alpha-2, resulting in decreased bone density and strength. This makes the bones more brittle and prone to fractures at an early age or with minor stresses. OI ranges in severity from mild forms with few fractures to lethal forms apparent from birth or in early infancy with severe bone deformities.

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    63 Ansichten12 Seiten

    Osteogenesis Imperfecta

    Hochgeladen von

    Kiara Nurmathias
    Osteogenesis imperfecta (OI) is a genetic disorder characterized by bones that break easily due to a defective synthesis of type I collagen. There are over 150 mutations that can occur in the genes that encode the alpha chains of type I collagen, procollagen alpha-1 and alpha-2, resulting in decreased bone density and strength. This makes the bones more brittle and prone to fractures at an early age or with minor stresses. OI ranges in severity from mild forms with few fractures to lethal forms apparent from birth or in early infancy with severe bone deformities.

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    © All Rights Reserved
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    von 12

    OSTEOGENESIS IMPERFECTA

    Adinda Widyantidewi
    03011005

    Osteogenesis Imperfecta
    (OI)
    Osteogenesis imperfecta (OI) is a
    genetic disorder in which bones
    break easily.

    Osteogenesis imperfecta
    can present at any age,
    although the more
    severe forms tend to
    become evident at a
    younger age.

    causes

    defective
    synthesis of type
    I collagen

    &

    pathology
    Theres an error synthesis of type 1
    collagen, more than 150 mutations in
    pro-collagen 1 & 2 . Causing the
    decreased external bone volume and
    tensile strength of lamellar bone and
    osteopenia. Make the bones break easily
    and easily fracture,this disorder interferes
    the bone growth and can leads to
    multiple fractures.

    Type of OI

    Type
    Type
    Type
    Type

    I the most common form


    II lethal perinatal
    III progressive deforming
    IV similar to type I

    symptoms
    Blue tint to the whites of their eyes (blue
    sclera)
    Multiple bone fractures
    Early hearing loss (deafness)
    Bowed legs and arms
    Short stature

    diagnosis

    A physical examination
    Skin punch biopsy
    chorionic villus sampling
    Ultrasound
    X-ray

    Theraphy & treatment

    Bisphosphonates
    Low impact exercises
    Surgery
    Crutches
    Wheelchairs
    A social worker or psychologist

    THANKYOU :)

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