Osteogenesis imperfecta
This is a lethal form of osteogenesis imperfecta (OI) in which the fractures even appear in utero, as revealed by this radiograph of a stillborn fetus. Note the irregular motheaten appearance of the long bones of the arm.The term "osteogenesis imperfecta" means imperfect bone formation. It is a congenital bone disorder characterized by brittle bones that are prone to fracture (often from mild trauma or with no apparent cause). Multiple fractures are common, and in severe cases, can occur even before birth (as seen in the mentioned case). People are born with defective connective tissue, or without the ability to make it, usually because of a deficiency of Type-I collagen.Diagnosed by occurrence of bone fractures with little trauma, and determining the quantity of type-I collagen. Treatment is aimed at increasing overall bone strength to prevent fracture and maintain mobility. Bisphosphonates can increase bone mass, and reduce bone pain and fracture.
