Osteogenesis Imperfecta
Pronounced: os-tee-oh-GEN-a-sis im-per-FEK-ta
Definition
Osteogenesis imperfecta (OI) is a genetic problem that causes bones to break easily, often for little or no obvious reason. As many as 50,000 Americans currently have OI, and there are at least four forms of the disease. If you suspect that you have this condition, contact your doctor immediately. The sooner OI is detected and treated, the more favorable the outcome.
The Bones of the Body
Causes
OI is a genetic disorder that is present at birth. It is caused by an abnormality in collagen.
Risk Factors
A risk factor is something that increases your chance of getting a disease or condition. If you have the following risk factor for OI, tell your doctor:
- A family history of OI
Symptoms
In the four most common types of OI, symptoms may include:
- Bone fractures
- Bone deformity
- Short height
- Loose joints and muscle weakness
- Sclera (whites of the eyes) may have a blue, purple, or gray tint
- Triangular face
- Tendency toward spinal curvature
- Brittle teeth
- Hearing loss
- Breathing problems
Diagnosis
Your doctor will ask about your symptoms and medical history, and perform a physical examination. He or she will probably refer you to a doctor specializing in bone care (an orthopedist) for much of your care. If you have OI, your doctor may diagnose it based on your appearance alone. Tests will likely include:
- Collagen biochemical tests
- A genetic (DNA) test that may require a skin biopsy
When osteogenesis imperfecta may affect a developing fetus, a level II ultrasound can reveal the diagnosis by about 16 weeks, in severe cases. Chorionic villus sampling (CVS) can also be used for prenatal diagnosis.
Treatment
There is presently no cure for OI, so treatment is directed toward:
- Preventing health problems
- Improving independence and mobility
- Developing bone and muscle strength
Also, a surgical procedure called “rodding” is often considered for people with OI. This surgery involves inserting metal rods through the length of the long bones to strengthen them and prevent and/or correct deformities.
Prevention
OI is caused by a genetic defect. Overall, any person with OI has a 50% chance of passing the disease to his or her children. Through genetic counseling, OI can be prevented from being passed from one generation to another.
Problems related to OI can be reduced or prevented by a healthy lifestyle with exercise and good nutrition. Avoid smoking and excessive alcohol consumption, which may weaken bone and increase fracture risk.
RESOURCES:
NIH Osteoporosis and Related Bone Diseases—National Resource Center
http://www.niams.nih.gov/bone/
Osteogenesis Imperfecta Foundation
http://www.oif.org/site/
CANADIAN RESOURCES:
Canadian Orthopaedic Foundation
http://www.canorth.org/
The Hospital for Sick Children
http://www.sickkids.ca/
References:
Antoniazzi F, Mottes M, Fraschini P, Brunelli PC, Tato L. Osteogenesis imperfecta: practical treatment guidelines. Paediatr Drugs . 2000;2:465-488.
Behrman RE et al. Nelson Textbook of Pediatrics . 17th ed. Philadelphia, PA: Sanders; 2004.
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.
McLean KR. Osteogenesis imperfecta. Neonatal Netw . 2004;23:7-14.
Niyibizi C, Wang S, Mi Z, Robbins PD. Gene therapy approaches for osteogenesis imperfecta. Gene Ther . 2004;11:408-416.
Silverwood B. Osteogenesis imperfecta: care and management. Paediatr Nurs . 2001;13:38-42.
Zeitlin L, Fassier F, Glorieux FH. Modern approach to children with osteogenesis imperfecta. J Pediatr Orthop B . 2003;12:77-87.
Last reviewed November 2008 by Kari Kassir, MD
Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.
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