Frontonasal dysplasia: clinical evaluation on audiological and brainstem electrophysiological profiles

AbstractFrontonasal dysplasia (FND) is a rare malformative complex affecting the frontal portion of the face, the eyes and the nose; it may occur singly or associated with other clinical signs. No systematic studies describing hearing in this condition were found.AimTo evaluate hearing sensitivity and sound stimulus conduction from cochlea to brainstem in patients with clinical signs of FND.Methods21 patients with isolated or syndromic FND were submitted to a clinical (otological/ vestibular antecedents and otoscopy) and instrumental (pure tone and speech audiometry, tympanometry and brainstem auditory evoked response) hearing evaluation.DesignA clinical, cross-sectional observational prospective study.ResultsHearing thresholds were normal in 15 (70%) patients, abnormal in 5 (25%), mostly with conductive hearing loss; one patient did not cooperate with testing. The tympanometric curve was type A in 30 (72%) ears, type C in 5 (12%), type As in 4 (9%) and type B in 3 (7%). The auditory brainstem response (ABR) showed no abnormalities.ConclusionPatients with FND showed no abnormalities in the auditory system from cochlea to brainstem in this study. Mild conductive hearing loss found in some is probably related to cleft palate. Further evaluation of hearing pathways at higher levels is recommended