Osteogenesis imperfecta — also known as brittle bone disease — is a heterogeneous group of inherited bone dysplasias characterized by skeletal deformity and bone fragility. In this Primer, Marini et al. provide an overview of the epidemiology, genetics, pathophysiology, diagnosis and management of osteogenesis imperfecta.
- Joan C. Marini
- Antonella Forlino
- Oliver Semler