title: Orthopaedic manifestations and management of spondyloepimetaphyseal dysplasia Strudwick type.
abstract: Spondyloepimetaphyseal dysplasia (SEMD) Strudwick type is a rare autosomal dominant condition arising from defects in COL2A1 the genes responsible for the biosynthesis of procollagen type II. The orthopaedic manifestations of patients can be hypoplastic odontoid peg with atlantoaxial instability, severe kyphosis or lordosis of dorsal and lumbar spines, hip subluxation, coxa vara and early severe hip osteoarthritis, and malalignment of lower limbs like genu valgum or club foot. We report a mother and daughter with SEMD Strudwick Type and describe their orthopaedic problems, surgical management and clinical outcome after 30 years and 7 years of follow-up respectively.
authors.affiliation: Department of Paediatric Orthopaedics, Bristol Royal Hospital for Sick Children, Bristol, UK. ramirfeyz@yahoo.com
authors.forename: Rouin
authors.initials: R
authors.lastname: Amirfeyz
authors.forename: A
authors.initials: A
authors.lastname: Taylor
authors.forename: S F
authors.initials: SF
authors.lastname: Smithson
authors.forename: M F
authors.initials: MF
authors.lastname: Gargan
mesh_terms: D000328:Adult; D019644:Arthroplasty, Replacement, Hip; D002648:Child; D005260:Female; D005269:Femur / Q000503:physiopathology* / Q000601:surgery; D005500:Follow-Up Studies; D006621:Hip Joint / Q000503:physiopathology* / Q000601:surgery; D006801:Humans; D016916:Joint Deformities, Acquired / Q000503:physiopathology* / Q000601:surgery; D007870:Leg Length Inequality / Q000503:physiopathology / Q000601:surgery; D008159:Lumbar Vertebrae / Q000002:abnormalities; D015207:Osteoarthritis, Hip / Q000503:physiopathology / Q000601:surgery; D010009:Osteochondrodysplasias / Q000235:genetics / Q000503:physiopathology* / Q000601:surgery; D010027:Osteotomy; D012447:Sacrum / Q000002:abnormalities; D012600:Scoliosis / Q000503:physiopathology; D013977:Tibia / Q000503:physiopathology* / Q000601:surgery; D016138:Walking / Q000502:physiology