Osteogenesis imperfecta
Osteogenesis imperfecta is a connective tissue disorder characterised by bone fragility, leading to increased risk of fracture. It has several clinical and genetic subtypes of varying severity and can be diagnosed at any age, from in utero to adulthood. Blue sclerae, wormian bones of the skull, joint hypermobility and opalescent dentition can be present. Specialist management is required.
Intravenous bisphosphonate therapy (pamidronate or zoledronic acid) is recommended for children and young adults with moderate to severe disease. Its use is associated with increased bone mass, enhanced mobility and growth, reduced pain and fracture rate, and vertebral modelling. The Australian Paediatric Working Group provides more detailed information about the use of bisphosphonates in young people1.