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Osteogenesis Imperfecta

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by Smith N

(OI; Brittle Bone Disease)

 

Diagnosis

Your doctor will ask about your symptoms and medical history. A physical exam will be done. OI may be diagnosed based on your history of fractures or appearance alone. Your doctor may order tests to confirm the diagnosis.
Your bones may need to be examined. This can be done with:
Your doctor may also want to do genetic testing. This can help determine the type of OI. Genetic testing can be done through a blood, saliva, or skin biopsy.
If you are pregnant and have a family history of OI your doctor may do:
 

Treatment

There is presently no cure for OI. In general, treatment is directed toward:
  • Preventing health problems
  • Improving independence and mobility
  • Developing bone and muscle strength
Some supportive treatment options include:
Problems related to OI, such as fractures, can be reduced or prevented by a healthy lifestyle. This should include:
  • Exercise—swimming is often an ideal and safe activity
  • Good nutrition
  • Not smoking
  • Avoiding excessive amounts of alcohol
 

RESOURCES

National Institute of Arthritis and Musculoskeletal and Skin Diseases
http://www.niams.nih.gov

Osteogenesis Imperfecta Foundation
http://www.oif.org

 

CANADIAN RESOURCES

Canadian Orthopaedic Foundation
http://www.canorth.org

The Hospital for Sick Children
http://www.sickkids.ca

 

References


Osteogenesis imperfecta. EBSCO DynaMed website. Available at: https://dynamed.ebscohost.com/about/about-us. Updated May 10, 2013. Accessed August 6, 2013.


Chevrel G, Meunier PJ. Osteogenesis imperfecta: lifelong management is imperative and feasible. Joint Bone Spine. 2001;68:125-129.


Types of OI. Osteogenesis Imperfecta Foundation website. Available at: http://www.oif.org/site/PageServer?pagename=AOI%5FTypes. Accessed August 6, 2013.

 

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