Recent advances in the management of osteogenesis imperfecta

Abstract 

Osteogenesis imperfecta (OI) is a crippling disorder whose primary manifestations are fractures, bone deformity and bone pain. Children with OI have reduced mobility, require increased caregiver assistance and may need significant adaptations to their environment. Medical, surgical, physiotherapy and occupational therapy assessment and directed treatment all have a role in the management of these children. Although the most prominent change in the management of these children over the past decade has been the emergence of bisphosphonate therapy, the multidisciplinary approach to the treatment of these children remains the foundation upon which all else is built. The classification of OI has also changed recently. Three new forms of OI have been described, none of which appear to have type I collagen mutations as their underlying cause. Clinical assessment of children with recurrent fractures remains the key evaluation for OI syndromes. Diagnostic tests (biochemical, radiological and molecular) are often not informative in an individual situation. This article provides information on the assessment, investigation and management of children with OI, and reviews the available data concerning the efficacy of different treatment interventions.

Keywords: osteogenesis imperfecta, fractures, bisphosphonates, multidisciplinary team

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• f1 Correspondence to: NJB. Tel.: +44(0) 114 271 7677/7555; Fax: +44(0) 114 2755364; E-mail: n.j.bishop@sheffield.ac.uk