Case Report of Atlanto-axial Rotatory Fixation in a Girl with Spondylocarpotarsal Synostosis Syndrome
Author Information
Author(s): Ali Al Kaissi, Farid Ben Chehida, Hassan Gharbi, Maher Ben Ghachem, Franz Grill, Klaus Klaushofer
Primary Institution: Ludwig-Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling
Hypothesis
The study investigates the association of atlanto-axial rotatory fixation with spondylocarpotarsal synostosis syndrome in a pediatric patient.
Conclusion
This case report highlights the importance of CT scans in diagnosing craniocervical malformations in patients with spondylocarpotarsal synostosis syndrome.
Supporting Evidence
- The patient presented with spinal malsegmentation and other skeletal anomalies.
- CT scans were crucial in identifying the craniocervical malformation.
- This is the first clinical report linking atlanto-axial rotatory fixation with spondylocarpotarsal synostosis syndrome.
Takeaway
A 15-year-old girl had a rare condition where her neck bones were stuck in a twisted position, and doctors used special scans to understand her problem better.
Methodology
The study involved clinical evaluation, radiographic analysis, and CT scans to assess the patient's condition.
Limitations
The study is based on a single case report, limiting the generalizability of the findings.
Participant Demographics
The participant was a 15-year-old girl with a family history of genetic disorders.
Digital Object Identifier (DOI)
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