Upper Airway Asymmetry in Velo-Cardio-Facial Syndrome
Objective: Various forms of asymmetry have been recognized as a feature of velo-cardio-facial syndrome (VCFS). This study was implemented to determine the frequency of anatomic and functional asymmetry of the velum, pharynx and larynx in children with VCFS.
Methods: Individuals with VCFS underwent prospective, blinded analysis by an expert panel who assessed the velum, pharynx and larynx with multi-view videofluoroscopy (MVF) and nasopharyngolaryngoscopy (NPL). The VCFS group was compared to an age-matched group of normal individuals. Eight different parameters were assessed in both groups for functional and anatomic symmetry including: velar elevation, adenoid size, posterior pharyngeal wall size, carotid pulsations, epiglottis size and shape, arytenoid size, true vocal cord size and true vocal cord motion.
Results: One hundred and twenty-one subjects with VCFS and 20 normal individuals underwent examination. Children with VCFS showed significantly more asymmetry compared to the normal group (69% versus 20%, P=0.01) with greatest differences seen with palatal motion, posterior pharyngeal wall size and epiglottis shape. On average, subjects with VCFS had three asymmetric parameters versus one parameter in the normal group.
Conclusion: Asymmetric development of the pharynx and larynx in children with VCFS appears to be a distinct clinical feature of this syndrome. This finding may provide an important diagnostic clue for patients presenting with subtle features of the 22q11.2 microdeletion. These developmental abnormalities may increase the risk of speech impairment, aspiration and airway obstruction in affected individuals.
Chegar, Burke E., et al. "Upper Airway Asymmetry in Velo-Cardio-Facial Syndrome." International Journal of Pediatric Otorhinolaryngology 70.8 (2006): 1375-1381.