Osteogenesis Imperfecta
Osteogenesis imperfecta is a genetic disorder of connective tissue characterized by long bone fractures, skeletal deformities, blue sclera, hearing loss, and fragile opaque teeth (dentigerous imperfect) Autosomal dominant 80-90 % cases: Genetic background reveals a defect in type I collagen formation, which is a major structural protein found in bone and connective tissue Pathophysiology Collagen […]
Read More