Abstract
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
Highlights
Osteogenesis imperfecta (OI) is an inherited collagen type 1 disorder with varying clinical manifestations.[1,2] Hallmarks include bone fragility, blue sclera, impaired hearing, defective dentition and hyperlaxity.[1,3] The diversity of age at presentation and bone fragility best demonstrate the broad clinical spectrum of this condition
The clinical presentation ranges from mild forms to severe and lethal forms. 1,2 Milder forms generally present in later stages of life, often with long bone fractures after minor trauma while the more severe forms can present with marked skeletal dysplasias, delayed milestones and even perinatal or early childhood death.[1,2]
90% of patients have an identifiable mutation in genes encoding for either the type 1 collagen or those involved in its post-translational modification, resulting in qualitative and/or quantitative defects.[1,4]
Summary
Osteogenesis imperfecta (OI) is an inherited collagen type 1 disorder with varying clinical manifestations.[1,2] Hallmarks include bone fragility, blue sclera, impaired hearing, defective dentition and hyperlaxity.[1,3] The diversity of age at presentation and bone fragility best demonstrate the broad clinical spectrum of this condition. In 2003, the Fassier-Duval telescopic rod was introduced as having the advantage of a single proximal entry point and improved ‘screw-in’ fixation in the epiphyses plus a revision rate of 14%.24 It is inserted through small incisions under fluoroscopic control in conjunction with percutaneous osteotomies, whenever possible.[1,23,24,25,26] Rigid post-operative immobilisation is unnecessary.[24,26] The procedure requires meticulous technique and experience.[24,26] multiple bones may be treated simultaneously, reducing the operative burden on patients.[1,23,24,25,26]. Spinal fusion has been recommended for scoliotic curves greater than 45 degrees to halt progression.[1,26] For patients with more severe involvement, fusion is recommended for curves over 35 degrees, as these curves are most often progressive and potentially severe.[1,26] There is a high incidence of complications from spinal fusion in OI, because internal fixation is limited by poor bone quality, autogenous iliac-crest bone graft is limited, and patients have a propensity to bleed.[1,26] further discussion of spine-related issues falls outside the scope of this paper
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