Osteogenesis imperfecta/Definition

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Osteogenesis imperfecta [r]: Autosomal dominant collagen diseases resulting from defective biosynthesis of collagen Type I and characterized by brittle, osteoporotic, and easily fractured bones. It may also present with blue sclerae, loose joints, and imperfect dentin formation. There are four major types, I-IV.

This definition is at least in part based on: Anonymous (2024), Osteogenesis imperfecta (English). Medical Subject Headings. U.S. National Library of Medicine.