Skeletal dysplasias and rare bone disorders: a template for assessment and management

Abstract

Rare bone disorders are just that, rare. Despite this fact, patients with these conditions are a relatively popular inclusion in orthopaedic clinical examinations. This paper aims to elucidate several of these conditions to improve the potential examination candidates' knowledge of their presentation, clinical examination findings, pathology and importantly, up to date principles of management of these conditions in the UK. This article will take the prospective candidate through the approach for a clinical examination, principles of management of skeletal dysplasias in UK practice, followed by more in depth discussion of multiple epiphyseal dysplasia, spondyloepiphyseal dysplasia congenita and tarda, achondroplasia, pseudoachondroplasia, Ollier's disease, multiple hereditary exostosis, osteopetrosis, hypophosphatasia, fibrous dysplasia, osteogenesis imperfecta, cleidocranial dysplasia, X-linked hypophosphataemia, Langerhan's cell hystiocytosis and chronic non-bacterial osteomyelitis/chronic recurrent multifocal osteomyelitis. This work includes clinical photographs and radiographs (published with permission) to illustrate some of the key clinical and radiological findings of these conditions.