Objective

This study described the occurrence and expression of pharyngeal and laryngeal anomalies in a population of patients with oculo-auriculo-vertebral spectrum (OAVS).

Design

Cross-sectional study using chart review, physical examination, and endoscopic evaluation of the pharynx and larynx, and perceptual and aerodynamic evaluation of speech for assessment of vocal tract function.

Setting

Academic tertiary referral center.

Patients

Chart review of 41 patients with a diagnosis of OAVS and clinical evaluation of 23 of the patients identified in the initial chart review, ranging in age from 9 months to 17 years.

Main outcome Measures

Data from chart review pertaining to airway and speech symptoms. Physical examination and endoscopic studies of pharyngeal and laryngeal structure and function and perceptual and aerodynamic evaluation of speech, resonance, and voice.

Results

Chart review showed a high occurrence of indicators of pharyngeal and laryngeal abnormalities such as velopharyngeal inadequacy and airway obstruction. Clinical evaluations documented a variety of abnormalities in pharyngeal and laryngeal structure and function as well as impairment in speech articulation, resonance, and voice. Presence and severity of pharyngeal and laryngeal abnormalities were not correlated with the severity of expression of the spectrum based on mandibular morphology.

Conclusions

Oculo-auriculo-vertebral spectrum appears to be associated with a high occurrence of structural and functional abnormalities of the pharynx and larynx that may contribute to increased risk of airway obstruction, communication impairment, and morbidity.

Search results

Evaluation of Pharyngeal and Laryngeal Structure and Function in Patients with Oculo-Auriculo-Vertebral Spectrum