Scoliosis in osteogenesis imperfecta caused by COL1A1/COL1A2 mutations — genotype–phenotype correlations and effect of bisphosphonate treatment

Bisphosphonates are widely used to treat children with osteogenesis imperfecta (OI), a bone fragility disorder that is most often caused by mutations in COL1A1 or COL1A2. However, it is unclear whether this treatment decreases the risk of developing scoliosis. We retrospectively evaluated spine radiographs and charts of 437 patients (227 female) with OI caused by mutations in COL1A1 or COL1A2 and compared the relationship between scoliosis, genotype and bisphosphonate treatment history. At the last follow-up (mean age 11.9 [SD: 5.9] years), 242 (55%) patients had scoliosis.

Source: Bone - February 26, 2016 Category: Orthopaedics Authors: Atsuko Sato, Jean Ouellet, Takeshi Muneta, Francis H. Glorieux, Frank Rauch Tags: Full Length Article Source Type: research