The Journal of Spine Surgery has published a review about Osteogenesis imperfecta (OI). OI is a kind of heritable connective tissue disorder, including blue sclerae, hearing loss, skeletal dysplasia causing bone fragility and deformities. It is typically caused by collagen related gene mutations, which could lead to bone formation abnormalities. Scoliosis is one of the most common and severe spinal phenotype which has been reported in approximately 26-74.5% of all OI patients. Recent breakthroughs have suggested that OI can be divided into more than 16 types based on genetic mutations with different degrees of scoliosis. In this review, the authors summarize the etiology of scoliosis in OI, especially the genetic studies of different types. The full-text review you can find here.
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