Three-dimensional craniofacial and airway morphology in paediatric patients with 22q11.2 deletion syndrome: a CBCT
G Durán Contreras1, A de la Hoz Calvo2, P Beltri Orta3
1DDS, MSc, PhD candidate. PhD Program in Biomedicine and Health Sciences, Doctoral School and Research, Universidad Europea de Madrid, Madrid, Spain.
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.
