Blue sclera and multiple fractures is indicative of ostoegenesis imperfecta (brittle bone disease), which is caused by defect in collagen synthesis due to an error in procollagen formation (FA2020 p50 and 51). There are multiple types that vary in severity.
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Blue sclera and multiple fractures is indicative of ostoegenesis imperfecta (brittle bone disease), which is caused by defect in collagen synthesis due to an error in procollagen formation (FA2020 p50 and 51). There are multiple types that vary in severity.