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Osteogenesis imperfecta (OI), in its typical form, is a genetic disorder of type I collagen. OI may be mild causing a few fractures to severe with hundreds of fractures in a lifetime. Characteristics in individuals with moderate to severe OI include short stature, multiple fractures, muscle weakness, joint laxity, skeletal deformities, hearing loss, curvature of the spine, blue sclera, and/or diffuse osteopenia which challenges their overall mobility [4, 9]. The traditional classification of OI by Sillence is a four-type subdivision . Types I–IV are a heterogeneous group due to type I collagen gene mutations. Type I, the most prevalent with the lowest fracture risk, are community walkers. Type II is lethal in the perinatal period. Type III is moderate to severe with multiple fractures and progressive bone deformity, therefore typically limited to household ambulation. Type IV is between type I and III with moderate risk of bone deformities and fractures, but those affec ...
Work performed at Hospital for Special Surgery.
HSS Journal, an academic peer-reviewed journal published three times a year, February, July and October. The Journal accepts and publishes peer reviewed articles from around the world that contribute to the advancement of the knowledge of musculoskeletal diseases and disorders.