Three-dimensional craniofacial and airway morphology in paediatric patients with 22q11.2 deletion syndrome: a CBCT study with correlation to velopharyngeal dysfunction

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ABSTRACT

Aim

This study aimed to analyse the three-dimensional craniofacial and pharyngeal airway morphology in paediatric patients with 22q11.2 deletion syndrome (22q11.2DS) using cone-beam computed tomography (CBCT) and to evaluate its correlations with velopharyngeal dysfunction (VPD).

Methods

Twenty-eight Spanish children aged 6-17 years were included: 14 with genetically confirmed 22q11.2DS and 14 non-syndromic controls. CBCT was used to obtain linear, angular, and volumetric measurements of the airway. VPD was assessed through oral and nasal examination, flexible nasopharyngoscopy, and perceptual speech evaluation.

Results

Patients with 22q11.2DS showed significantly shorter velar length (27.79 ± 2.44 mm vs. 32.32 ± 5.76 mm, p = 0.012) and posterior cranial base length (23.99 ± 2.71 mm vs. 29.73 ± 2.63 mm, p < 0.001), as well as a more obtuse posterior cranial base angle (145.62° ± 17.43 vs. 124.39° ± 33.88, p = 0.047). Glossopharyngeal airway volume (3.77 ± 1.75 cm³ vs. 2.07 ± 0.94 cm³, p = 0.003) and total pharyngeal airway volume (10.63 ± 3.36 cm³ vs. 8.04 ± 2.65 cm³, p = 0.033) were significantly larger in the syndromic group. Within this group, VPD correlated negatively with minimum cross-sectional area (r = —0.832, p < 0.001) and pharyngeal airway width (r = —0.684, p = 0.007), and positively with the ANB angle (r = 0.582, p = 0.029), anterior cranial base angle (r = 0.592, p = 0.026), and posterior cranial base angle (r = 0.648, p = 0.012).

Conclusion

VPD was associated with airway narrowing and cranial base angulation. These findings highlight the utility of CBCT for 3D craniofacial and airway assessment in paediatric patients with 22q11.2DS.

Statistics

Statistical tests included t-tests, the Mann-Whitney U test, and Pearson or Spearman correlations (α = 0.05).

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