Osteogenesis Imperfecta

Key points

• Osteogenesis imperfecta (more commonly known as brittle bone disease) is a group of disorders of collagen metabolism resulting in bone fragility and fractures. The most common, and milder,
• autosomal dominant
• abnormality in type 1 collagen due to decreased synthesis of pro-alpha 1 or pro-alpha 2 collagen polypeptides Features
• presents in childhood
• fractures following minor trauma