26/02/2026
Osteogenesis imperfecta is more than fragile bones.
It is a systemic disorder caused by a defect in type I collagen, affecting bone, teeth, hearing, and connective tissue.
Complications include recurrent fractures, bone deformities, short stature, blue sclera, dentinogenesis imperfecta, and hearing loss.
Severe disease can lead to restrictive lung disease, basilar invagination, and valvular heart involvement.
Think type I collagen whenever you see bone fragility with extraskeletal findings.
genetics osteogenesisimperfecta
