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osteogenesis imperfecta
 
Osteogenesis imperfecta, also known as brittle-bone disease, is a genetic disorder characterized by bones that break easily without a specific cause. OI can affect males and females of all races.  The cause of OI is believed to be due to a genetic defect that causes imperfectly-formed, or an inadequate amount of, bone collagen.  Bone collagen is a protein that is found in the connective tissue.
 
Symptoms
Symptoms may include;
  • Type I
    • bones fracture easily
    • dental problems
    • early hearing loss
    • tendency toward spinal curvatures
  • Type II
    • very small stature
    • extremely small chest
    • under developed lungs
  • Type III
    • very small in stature
    • x-ray may reveal healing of in utero fractures
    • severe early hearing loss
    • poor muscle development in arms and legs
    • barrel-shaped rib cage
  • Type IV
    • bones fracture easily
    • severe problems with teeth
    • spinal curvatures
    • loose joints
 
Treatments
To date, there is no known treatment, medicine, or surgery that will cure this condition. The goal of treatment is to prevent deformities and fractures and allow children to function as independently as possible.

Treatment may include:
  • care of fractures
  • surgery
  • dental procedures
  • physical therapy
  • assistive devices such as wheelchairs or braces

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Robert Wood Johnson University Hospital Hamilton Hamilton. Phone: 609-586-7900 Physician Referral: 609-584-5900.

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