Osteogenesis Imperfecta GeneReviews

Description: Summary Disease characteristics. Osteogenesis imperfecta (OI) is a group of disorders characterized by fractures with minimal or absent trauma, dentinogenesis imperfecta (DI), and, in adult years, hearing loss. The clinical features of OI represent a continuum ranging from perinatal lethality to individuals with severe skeletal deformities, mobility impairments, and very short stature to nearly asymptomatic individuals with a mild predisposition to fractures, normal stature, and normal lifespan. Fractures can occur in any bone, but are most common in the extremities. DI is characterized by grey or brown teeth that may appear translucent and wear down and break easily. Before the molecular basis of OI was understood, OI was classified into four types on the basis of mode of inheritance, clinical presentation, and radiographic findings. With detailed radiographic and bone morphologic studies and molecular genetic analyses, the classification has expanded to seven types and it is likely that more will emerge. This classification into types of OI is helpful in providing information about prognosis and management, but it should be remembered that many of the types of OI represent an artificial construct on a broad clinical entity. Authors: , MD Melanie G Pepin, MS, CGC Peter H Byers, MD