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Open Access Highly Accessed Case Report

Atlanto-axial rotatory fixation in a girl with Spondylocarpotarsal synostosis syndrome

Ali Al Kaissi12*, Farid Ben Chehida3, Hassan Gharbi3, Maher Ben Ghachem2, Franz Grill4 and Klaus Klaushofer1

Author Affiliations

1 Ludwig-Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 4th Medical Department, Hanusch Hospital. Heinrich Collins Str. 30 A-1140, Vienna, Austria

2 Department of Paediatric Orthopaedic Surgery-Children Hospital of Tunis, Jabari, 1007 Tunisia

3 Center of Radiology-Department of Imaging Studies-Ibn Zohr Institute, Tunis, City El-Khadra 1003, Tunisia

4 Orthopaedic Hospital of Speising, Paediatric Department, 109-Speisninger Str. Vienna-1130, Austria

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Scoliosis 2006, 1:15  doi:10.1186/1748-7161-1-15

Published: 16 October 2006

Abstract

We report a 15-year-old girl who presented with spinal malsegmentation, associated with other skeletal anomalies. The spinal malsegmentation was subsequently discovered to be part of the spondylocarpotarsal synostosis syndrome. In addition, a distinctive craniocervical malformation was identified, which included atlanto-axial rotatory fixation. The clinical and the radiographic findings are described, and we emphasise the importance of computerised tomography to characterize the craniocervical malformation complex. To the best of our knowledge, this is the first clinical report of a child with spondylocarpotarsal synostosis associated with atlanto-axial rotatory fixation.