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Cervical spine in the Apert syndrome
S Kreiborg1, M Barr, M M Cohen
1Department of Pediatric Dentistry, Royal Dental College, Copenhagen, Denmark.
American Journal of Medical Genetics
|July 11, 1992
Summary
Apert syndrome frequently causes cervical spine fusion, most commonly at C5-C6. Early radiographic signs include vertebral irregularities, aiding diagnosis before anesthesia for acrocephalosyndactyly.
Area of Science:
- Medical Imaging
- Genetics
- Orthopedics
Background:
- Apert syndrome is a genetic disorder characterized by craniosynostosis and syndactyly.
- Cervical spine anomalies are common in craniosynostosis syndromes, potentially impacting airway management.
- Distinguishing between different craniosynostosis syndromes is crucial for accurate diagnosis and treatment.
Purpose of the Study:
- To investigate the prevalence and patterns of cervical spine fusion in Apert syndrome.
- To identify early radiographic indicators of cervical fusion in Apert syndrome.
- To compare cervical fusion patterns in Apert syndrome with those in Crouzon syndrome.
Main Methods:
- Retrospective analysis of cervical spine radiographs from 68 Apert syndrome cases.
- Inclusion of autopsy and CT-based 3D reconstruction data for detailed analysis.
- Comparison of findings with published data on cervical fusion in Crouzon syndrome.
Main Results:
- Cervical spine fusion observed in 68% of Apert syndrome cases.
- C5-C6 fusion was the most common pattern, occurring in isolation or combination.
- Early radiographic signs include vertebral body irregularity and intervertebral space narrowing.
Conclusions:
- Cervical spine fusion is highly prevalent in Apert syndrome, with a distinct C5-C6 predilection.
- Radiographic assessment of the cervical spine is essential before anesthesia in acrocephalosyndactyly due to airway risks.
- C5-C6 fusion in Apert syndrome contrasts with C2-C3 fusion in Crouzon syndrome, aiding differential diagnosis.