Frontonasal dysplasia: clinical evaluation on audiological and brainstem electrophysiological profiles

Abstract

Front onasal 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. Aim:To evaluate hearing sensitivity and sound stimulus conduction from cochlea to brainstem in patients with clinical signs of FND.Methods: 21 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.Design: A clinical, cross-sectional observational prospective study. Results:Hearing 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. Conclusion:Patients 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. Braz J Otorhinolaryngol. 2011;77(5):611-5. ORIGINAL ARTICLE BJORL

Binder syndrome: Clinical findings and surgical treatment of 18 patients at the Department of Plastic Surgery in Polanica Zdrój

“…[4][5][6] Antoneli et al investigated audiological and brainstem electrophysiological profiles of patients diagnosed with frontonasal dysplasia and they found no abnormalities in the auditory system from the cochlea to the brainstem, while the mild conductive hearing loss found in the patients with BS and a cleft palate was related to the cleft. 7 Most authors agree that a flat nose and midfacial retrusion are the two most common findings in Binder syndrome. The syndrome is therefore connected with such terms as "dish face", "fossae prenasalis" and "facies scaphoidea".…”

Em busca da etiologia das displasias frontonasais

“…A DFN pode ser vista como um defeito de desenvolvimento que pode ocorrer por si só ou como parte do quadro clínico de várias síndromes, a grande maioria de etiologia e padrão de herança desconhecidos (Guion-Almeida, 2000;Guion-Almeida et al, 1996; Guion-Almeida e Richieri-Costa, 2001. Há trabalhos que sugerem uma maior ocorrência de DFN em meninos, mas estes resultados são ainda controversos (Guion-Almeida et al, 1996;Rizvi et al, 2010;Antoneli, 2011).…”