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Osteogenesis Imperfecta

Authors:
  • Cynthia M. Johnson, MA
Publication Type:

Condition

Osteogenesis Imperfecta

(OI; Brittle Bone Disease)

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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Nucleus factsheet imagehttp://services.epnet.com/getimage.aspx?imageiid=46954695AL00032_ma.jpgAL00032_ma.jpgNULLjpgFull skeletonNULL\\filer01a\Intellect\images\AL00032_ma.jpgNULL14NULL2004-03-233003004695_99917Copyright © Nucleus Medical Media, Inc.

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:

Prevention

There are no known guidelines to prevent OI.

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:

CANADIAN RESOURCES:

CANADIAN RESOURCES:

References

  • About OI. Osteogenesis Imperfecta Foundation website. Available at: https://oif.org/informationcenter/about-oi.
  • Osteogenesis imperfecta. EBSCO DynaMed website. Available at: https://www.dynamed.com/condition/osteogenesis-imperfecta-16.

Contributors

  • Kari Kuenn, MD
Last Updated:
2022-09-01

(C) Copyright 2023 EBSCO Information Services

This content is reviewed regularly and is updated when new and relevant evidence is made available. This information is neither intended nor implied to be a substitute for professional medical advice. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with questions regarding a medical condition.