Cervical spine abnormalities in 22q11.2 deletion syndrome.

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 (