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Card
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Title
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Osteogenesis imperfecta
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ImagePath
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System
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Collagen synthesis disorder
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Overview
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Heritable bone fragility due to abnormal type I collagen.
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Pathophysiology
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AD COL1A1/2 mutations → ↓quantity (type I) or quality (rare) of collagen.
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Presentation
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Multiple fractures with minimal trauma, blue sclerae, hearing loss, dentinogenesis imperfecta.
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Diagnosis
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Clinical; COL1A1/2 sequencing; DEXA shows low bone density.
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Management
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Bisphosphonates, physical therapy, surgical rodding, hearing aids.
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Epidemiology
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Incidence 1:20,000.
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Tags
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