Osteogenesis Imperfecta

Osteogenesis imperfecta is caused by mutations in the COL1A1 or COL1A2 genes, resulting in defects in collagen structure or quantity. The clinical spectrum ranges from mild bone fragility to perinatal lethality. Clinical presentation is variable and may include recurrent fractures, osteopenia, hearing loss, vascular fragility, blue-gray sclera, and skeletal deformities. Prenatal diagnosis and monitoring typically involve US and chorionic biopsy with genetic testing, while postnatal evaluation includes radiography, dual-energy x-ray absorptiometry, and confirmatory genetic testing. Management focuses on reducing fracture risk and improving function through bisphosphonates, physical therapy, and surgical stabilization.