Definition
Osteogenesis imperfecta (OI) is a rare bone disease. It results in weakened bones that break easily. There are at least 8 types of OI.
| The Bones of the Body |
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Causes
Collagen is needed for bone health. OI happens when the gene that controls the making of collagen is faulty. The faulty gene may be random or inherited from one or both parents.
Symptoms
The most common problem is weak bones that break easily. Other problems may be:
- Bone pain
- Bone deformity
- Problems breathing
- Bruising easily
- Hearing loss
- Loose joints and muscle weakness
- Short height
- Triangular face
- A blue, purple, or gray tint to the whites of the eyes
- Brittle or discolored teeth
Diagnosis
The diagnosis may be made before a baby is born using an ultrasound. Genetic testing may also be done using chorionic villus sampling.
In all others, the doctor will ask about symptoms and health history. A physical exam will be done.
Images will be taken of the bones. This can be done with X-rays.
Genetic testing may be done. This can be done through a blood, saliva, or skin biopsy.
Treatment
There is no cure for OI. The goal of treatment is to lower the risk of fractures and improve mobility. Bone health will need to be closely monitored.
Treatment choices are:
Supportive Care
Supportive care may be needed, such as:
- Physical therapy to improve strength, flexibility, and range of motion
- Muscle strengthening through regular exercise, such as swimming
- Assistive devices, such as braces, canes, or a wheelchair
Medicine
Medicine may be needed, such as:
- Pain relievers
- Bisphosphonates to slow bone loss
Procedures and Surgery
Procedures and surgery may be needed to:
- Correct bone deformities
- Repair fractures
- Correct dental problems
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