Orthopaedic manifestations and management of Spondyloepimetaphyseal dysplasia Strudwick type

R Amirfeyz, A Taylor, SF Smithson, MF Gargan

Research output: Contribution to journalArticle (Academic Journal)peer-review

9 Citations (Scopus)

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.
Translated title of the contributionOrthopaedic manifestations and management of Spondyloepimetaphyseal dysplasia Strudwick type
Original languageEnglish
Pages (from-to)41-44
Number of pages4
JournalJournal of Pediatric Orthopaedics Part B
Volume15
Issue number1
Publication statusPublished - Jan 2006

Bibliographical note

Publisher: Lippincott, Williams & Wilkins

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