Osteogenesis Imperfecta: A Review

Osteogenesis imperfecta (OI) is a connective tissue disorder that is caused by genetic mutation. OI is commonly known as brittle bone disease because patients suffering from this disease experience bone fractures with little or no trauma.1 There are 19 recognized forms of OI, 90% of these cases result from mutations in COL1A1 and COL1A2 genes.1 Severity of OI may range from mild to severe. The most common manifestation of OI is excessive fractures, but other manifestations may include short stature, scoliosis, basilar skull deformities, hearing loss, blue sclerae, dentinogenesis imperfecta, increased ligamentous laxity, and excessive bruising.2 Currently there is no test to diagnose OI; however, having a family history as well as manifestations outside of the skeletal system make the diagnosis straightforward. Making diagnosis can be challenging due to lack of commonalities. Genetic testing can be used to confirm in these circumstances. Key Words: Brittle Bone, osteogenesis imperfecta, congenital diseases, COL1A1, COL1A2, pathologic fracture References: 1.Osteogenesis imperfecta - Genetics Home Reference - NIH. U.S. National Library of Medicine. https://ghr.nlm.nih.gov/condition/osteogenesis-imperfecta. Accessed February 28, 2020. 2. Beary JF. Osteogenesis imperfecta: Clinical features and diagnosis. UpToDate. https://www.uptodate.com/contents/osteogenesis-imperfecta-clinical-features-and-diagnosis?search=osteogenesis%20imperfecta&source=search_result&selectedTitle=1~77&usage_type=default&display_rank=1#topicContent. Updated January 2020. Accessed February 28, 2020