Cervical Spine Abnormalities in 22q11.2 Deletion Syndrome
Bibliographic record
Abstract
OBJECTIVE: The 22q11.2 deletion syndrome is among the most common head-and-neck-related syndromes. The literature has examined many of the phenotypic features of 22q11.2 deletion syndrome; however, few studies have explored the manifestation of cervical spine abnormalities. In this study, we compared the cervical spines of individuals with and without 22q11.2 deletion syndrome using diagnostic imaging. DESIGN: A retrospective case-control study, with age- and sex-matched control participants who underwent flexion/extension x-rays and either a computed tomography or MRI scan. SETTING: PARTICIPANTS presented to the velopharyngeal insufficiency clinic at Victoria Hospital in London, Ontario, Canada, a tertiary care center. PARTICIPANTS: Sixteen pediatric patients (<age 18 at presentation) who had genetically confirmed 22q11.2 deletion syndrome were age- and sex-matched to 16 patients who presented with head and neck trauma without radiographic evidence of injury to the cervical spine. The mean age was 11.7 years (range, 2 to 21 years). MAIN OUTCOME MEASURE: Radiographic evidence of cervical spine abnormalities ± evidence of instability. RESULTS: Patients with 22q11.2 deletion syndrome were significantly more likely to have an open posterior arch of C1 (P < .0001), anterior arch cleft of C1 (P < .0001), and platybasia (P = .001). There was also a positive trend for fusion of the C2-C3 vertebrae (P = .051). CONCLUSION: Significant differences in radiographic cervical spine measurements were found between 22q11.2 deletion syndrome patients and controls. Cervical spine abnormalities are common phenotypic features of 22q11.2 deletion syndrome, but the clinical consequences are poorly understood. Further investigation is necessary to understand the possible ramifications of these abnormalities, including precautions during medically necessary interventions, and lifestyle limitations for these individuals.
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How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.001 |
| Insufficient payload (model declined to judge) | 0.001 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one teacher head, not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".