Osteogenesis imperfecta

Injury	Disease	Nutrition	Poison

Symptoms	Surgery	Test	Special Topic

Pectus excavatum

Osteogenesis imperfecta

Alternative Names:

Brittle bone disease
Treatment:

text continues below

Fractures must be repaired quickly in the usual ways to avoid deformities. There is no specific treatment for the underlying disease. However, there are several therapies that may improve the quality of life for patients with OI:

Good nutrition and directed exercise is key in helping to optimize bone and muscle strength. Physical rehabilitation and therapy can be quite beneficial. Swimming is an excellent conditioning exercise for many people with OI.
Surgical procedures, including the placement of metal rods through bones, can help strengthen bones and prevent deformity. Braces and walking aids are helpful for some.
The use of biphosphonates in children with OI is currently being researched with some promising results. Other medical interventions -- including bone marrow transplant, the use of growth hormone, and gene therapy -- are also under investigation.

Expectations (prognosis):

Permanent deformity of the extremities may occur. Brain damage may result from skull fractures. The disorder can be fatal. The disease is grouped by type:

Type 1 - Mild -- Compatible with normal life expectancy.
Type 2 - Lethal -- Most, but not all, die in early childhood.
Type 3 - Progressive deforming -- Decreased life expectancy.
Type 4 - Moderately severe -- Compatible with normal life expectancy.

Complications:

Recurrent pneumonia
Heart failure (cor pulmonale)
Brain damage
Permanent deformity
Breathing problems
Hearing loss

Calling your health care provider:

This disorder is often diagnosed at birth, but mild cases may not be detected until later in life. Call for an appointment with your health care provider if symptoms suggestive of this disorder occur.