Osteogenesis imperfecta


What are the first steps after an initial diagnosis of osteogenesis imperfecta?

After a diagnosis of osteogenesis imperfecta (OI) is confirmed, families should seek a medical consultation with a physician such as a metabolic genetic specialist with experience in treating the disorder. Supports groups such as Osteogenesis Imperfecta Foundation, Children's Brittle Bone Foundation, and the Brittle Bone Society can sometimes provide referrals to physicians or medical centers with experience in treating these disorders. People diagnosed with OI will go through a series of tests to see how far along the disorder is. These tests will tell a physician what parts of the body are affected and to what extent. They may need to conduct a hearing test. X-rays of the spine may be done and people may be evaluated for basilar impression (also called basilar invagination). This condition occurs when the upper part of the spine moves upward, blocking the opening at the base of the skull where the spine passes through. Other initial steps will depend on how the disorder is affecting a person. Families should see a genetic counselor to help understand the genetic aspects of this disorder.

Steiner RD, Adsit J, Basel D. COL1A1/2-Related Osteogenesis Imperfecta. GeneReviews website. Accessed April 6, 2017. https://www.ncbi.nlm.nih.gov/books/NBK1295/

Beary JF, Chines AA. Osteogenesis imperfecta: Management and prognosis. UpToDate, Inc. website. http://www.uptodate.com/contents/osteogenesis-imperfecta-management-and-prognosis

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