title: The orthopaedic manifestations of Smith-Magenis syndrome.
abstract: Smith-Magenis syndrome is a rare condition, which occurs due to interstitial deletion of chromosome 17. In order to evaluate the various orthopaedic characteristics of this syndrome, we examined 22 patients in the UK. The orthopaedic characteristics included brachydactily, short stature, flat feet and scoliosis. We found that 30% of our patients had significant scoliosis and some of them required corrective surgery. The objective of this paper is to describe the general orthopaedic and spinal manifestations of the syndrome and provide an overview of the other medical characteristics that an orthopaedic surgeon might encounter. We highlight this condition as a rare cause of progressive scoliosis that is not reported in the orthopaedic or spinal literature. As a result of this study we recommend a screening programme for scoliosis in children with Smith-Magenis syndrome.
authors.affiliation: Department of Orthopaedics, University Hospital of Wales, Cardiff, UK. jbs@spilbury.freeserve.co.uk
authors.forename: Jonathan
authors.initials: J
authors.lastname: Spilsbury
authors.forename: Khitish
authors.initials: K
authors.lastname: Mohanty
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics / Q000601:surgery; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002886:Chromosomes, Human, Pair 17; D005260:Female; D006801:Humans; D008607:Intellectual Disability; D008297:Male; D011859:Radiography; D012600:Scoliosis / Q000000981:diagnostic imaging*; D013577:Syndrome