title: Atlanto-axial rotatory fixation in a girl with Spondylocarpotarsal synostosis syndrome.
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.
authors.affiliation: 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. ali.alkaissi@osteologie.at
authors.forename: Ali
authors.initials: A
authors.lastname: Al Kaissi
authors.forename: Farid
authors.initials: F
authors.lastname: Ben Chehida
authors.forename: Hassan
authors.initials: H
authors.lastname: Gharbi
authors.forename: Maher
authors.initials: M
authors.lastname: Ben Ghachem
authors.forename: Franz
authors.initials: F
authors.lastname: Grill
authors.forename: Klaus
authors.initials: K
authors.lastname: Klaushofer