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 Keywords: osteogenesis imperfecta, type 1 collagen, multidisciplinary management, bisphosphonates, Fassier-Duval rods

Acetabular fracture and central hip dislocation in osteogenesis imperfecta child treated surgically with bone grafts augmented by recombinant human bone morphogenetic protein-2: A rare case report

“…OI type I has a distinctive blue sclera and is the mildest non-deforming form [ 1 , 2 ]. OI patients also have an inherent coagulation defect caused by abnormal collagen within endothelial capillaries.…”

“…In osteogenesis imperfecta (OI), connective tissue production is impaired qualitatively and quantitatively, resulting in brittle bones, and is caused by an autosomal dominant defect in the collagen gene (COL1A1 or COL1A2) [ 1 ]. There is an extremely low incidence of OI, approximately one in every 20.000 births [ 2 ]. This heritable connective tissue disorder is characterized by low bone mass and increased fracture likelihood [ 3 ].…”