(OI; Brittle Bone Disease)
|The Bones of the Body|
|Copyright © Nucleus Medical Media, Inc.|
Gene that controls making of collagen—an important element in bones and connective tissues
- Most common cause of OI.
- Most often caused by a random change in the gene. Not often associated with a family history.
Gene that controls proteins in cartilage
- Less common cause of OI.
- An inherited genetic change from parents. There is often a family history.
- Bone fractures
- Hearing loss
- Sclera (whites of the eyes) may have a blue, purple, or gray tint
- Bone deformity
- Short height
- Loose joints and muscle weakness
- Triangular face
- Tendency toward spinal curvature
- Brittle teeth
- Breathing problems
- Bruising easily
- Preventing health problems
- Improving independence and mobility
- Developing bone and muscle strength
- Medication called bisphosphonates—to increase bone mineral density
- Physical therapy—for range of motion and muscular strength exercises
- Surgical implant of rods into long bones—to provide strength and prevent or correct deformities
- Monitoring for development of fractures or scoliosis
- Assistive devices like canes or wheelchairs—may be needed with certain types of OI
- Exercise—swimming is often an ideal and safe activity
- Good nutrition
- Not smoking
- Avoid drinking excessive amounts of alcohol
NIH Osteoporosis and Related Bone Diseases—National Resource Center http://www.niams.nih.gov/
Osteogenesis Imperfecta Foundation http://www.oif.org/
Canadian Orthopaedic Foundation http://www.canorth.org/
The Hospital for Sick Children http://www.sickkids.ca/
Osteogenesis imperfecta. EBSCO DynaMed website. Available at: https://dynamed.ebscohost.com/about/about-us . Updated March 29, 2012. Accessed December 27, 2012.
Osteogenesis imperfecta. Osteogenesis Imperfecta Foundation website. Available at: http://www.oif.org/site/PageServer?pagename=AOI%5FTypes . Accessed December 27, 2012.
Chevrel G, Meunier PJ. Osteogenesis imperfecta: lifelong management is imperative and feasible. Joint Bone Spine . 2001;68:125-129.
Kleigman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, PA: Saunders; 2007.
- Reviewer: Michael Woods, MD
- Review Date: 11/2012 -
- Update Date: 11/26/2012 -