Occipitoatlantoaxial junction malformation and early onset senile ankylosing vertebral hyperostosis in a girl with MURCS association

Authors

  • Ali Al Kaissi,

    Corresponding author
    1. Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 4th Medical Department, Hanusch Hospital, Vienna, Austria
    2. Department of Paediatric Orthopaedic Surgery, Children Hospital of Tunis, Jabari, Tunisia
    • Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 4th Medical Department, Hanusch Hospital, Heinrich Collin Str. 30, A-1140 Vienna, Austria.
    Search for more papers by this author
  • Farid Ben Chehida,

    1. Center of Radiology, Department of Imaging Studies, Ibn Zohr Institute, Tunis, City Khadra, Tunisia
    Search for more papers by this author
  • Maher Ben Ghachem,

    1. Department of Paediatric Orthopaedic Surgery, Children Hospital of Tunis, Jabari, Tunisia
    Search for more papers by this author
  • Franz Grill,

    1. Orthopaedic Hospital of Speising, Paediatric Department, Vienna, Austria
    Search for more papers by this author
  • Klaus Klaushofer

    1. Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 4th Medical Department, Hanusch Hospital, Vienna, Austria
    Search for more papers by this author

  • How to cite this article: Al Kaissi A, Ben Chehida F, Ben Ghachem M, Grill F, Klaushofer K. 2009. Occipitoatlantoaxial junction malformation and early onset senile ankylosing vertebral hyperostosis in a girl with MURCS association. Am J Med Genet Part A 149A:470–474.

Abstract

Recent onset of head mobility limitations associated with significant stiffness along the vertebral column were the predominating symptomatology in a girl with MURCS association. Occipitoatlantoaxial junction malformation complex and vertebral hyperostosis have been identified. Three-dimensional computerized tomography (3-DCT) scan showed assimilation of the anterior arch of the atlas causing basilar invagination. She also had significant thoracic vertebral hyperostosis closely resembling senile ankylosing vertebral hyperostosis (Forestier disease). We report on what might be a novel constellation of spine maldevelopment in connection with MURCS association. © 2009 Wiley-Liss, Inc.

Ancillary