Osteogenesis imperfecta: an overview

Abstract

Osteogenesis imperfecta (OI) is a metabolic bone disorder commonly encountered in orthopaedic practice within the context of a multidisciplinary team. Although relatively rare, it is among the most researched of the skeletal dysplasias, making it challenging for the general orthopaedic surgeon to keep abreast with current evidence. The aim of this review article is to provide a comprehensive overview of OI for the general orthopaedic surgeon. It touches on the relevant epidemiology, pathology and clinical aspects of the condition. A discussion of the background and current topical issues surrounding the classification systems, and the medical and orthopaedic management aspects follows. The main focus of this review is on the peri-operative orthopaedic care of the appendicular musculoskeletal system. We trust it will equip the general orthopaedic surgeon with concise, up-to-date and relevant information to efficiently manage affected patients and caregivers in South Africa. Level of evidence: Level 5