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Spinal deformity in patients with DiGeorge syndrome
Athanasios I Tsirikos1, Lukman Ahmed Kashif Khan, Michael J McMaster
1Scottish National Spine Deformity Center, Royal Hospital for Sick Children, Edinburgh, UK. atsirikos@hotmail.com
Journal of Spinal Disorders & Techniques
|January 14, 2010
Summary
Spinal deformities in DiGeorge syndrome (22q11.2 deletion syndrome) are progressive and require surgical correction. Despite potential risks, surgical outcomes were favorable with no perioperative complications in this case series.
Area of Science:
- Orthopedics
- Genetics
- Pediatric Surgery
Background:
- Spinal deformity data is lacking in DiGeorge syndrome.
- Congenital thymic hypoplasia may increase surgical infection risk.
Purpose of the Study:
- To characterize spinal deformities in DiGeorge syndrome.
- To report treatment outcomes for spinal deformity in this population.
Main Methods:
- Retrospective review of 4 patients with DiGeorge syndrome and spinal deformity.
- Analysis of clinical data and spinal radiographs.
- Minimum 2.5-year follow-up post-spinal surgery.
Main Results:
- Spinal deformity diagnosed at a mean age of 9.9 years, progressing in all patients.
- Surgical correction (anterior or posterior spinal arthrodesis) performed at a mean age of 16.1 years.
- Good outcomes with no wound infections or perioperative complications, despite junctional kyphosis in some cases.
Conclusions:
- Spinal deformities in DiGeorge syndrome may relate to ligamentous laxity and cardiac issues.
- Variable deformity patterns necessitate surgical intervention.
- Surgical correction is effective with low complication rates.
