Osteogenesis Imperfecta

Causes

Collagen is needed for bone health. OI happens when the gene that controls collagen making is faulty. The faulty gene may be random or inherited from one or both parents.

Risk Factors

This problem is more common in people who have other family members with OI.

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
• A 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 test.

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

Prevention

There are no known guidelines to prevent OI.