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.