Aftermath of osteogenesis imperfecta: the disease in adulthood

To determine the effects of osteogenesis imperfecta and its treatment on adult life, thirty-one patients with osteogenesis imperfecta were examined at an average of nineteen years postoperatively. Seventy-two per cent of the operations that had been performed on these patients in childhood consisted of multiple osteotomies with intramedullary fixation to reduce fracture frequency and prevent bowing of the lower limbs. Only eight patients had remained non-ambulatory, seven of whom had severe long-bone deformity. Based on the study of these patients, we suggest that the severity of diaphyseal tapering and of disease are related; that scoliosis is frequent in adults with osteogenesis imperfecta; that the improvement gained at operation is maintained and enhances ambulation; and that as adults, these patients are generally very productive and socially adaptable individuals.