type I osteogenesis imperfecta

Osteogenesis imperfecta (OI), also known as brittle bone disease, is a rare hereditary connective tissue disorder characterized by bones that fracture easily. This condition arises from a genetic defect affecting the production of collagen, a key protein in connective tissue.12

Type I OI, the most common form, typically presents with fractures occurring after infancy, with frequency decreasing after puberty. Individuals may also experience bluish sclerae (the whites of the eyes), hearing loss, brittle teeth, and thin skin.1

There is no cure for OI. Treatment focuses on preventing fractures, managing symptoms, and improving bone mass. Bisphosphonate drugs and surgical interventions like bone rodding have shown effectiveness in some patients.1