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

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. 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.