Audiological Findings in Patients with Oculo-Auriculo-Vertebral Spectrum

Abstract

Introduction Oculo-auriculo-vertebral spectrum, also referred to as Goldenhar syndrome, is a condition characterized by alterations involving the development of the structures of the first and second branchial arches. The abnormalities primarily affect the face, the eyes, the spine, and the ears, and the auricular abnormalities are associated with possible hearing loss.

Objective To analyze the audiological findings of patients with oculo-auriculo-vertebral spectrum through liminal pure-tone audiometry and speech audiometry test.

Methods Cross-sectional study conducted on 10 patients with oculo-auriculo-vertebral spectrum and clinical findings on at least two of the following areas: orocraniofacial, ocular, auricular, and vertebral. All patients underwent tonal and vocal hearing evaluations.

Results Seven patients were male and three were female; all had ear abnormalities, and the right side was the most often affected. Conductive hearing loss was the most common (found in 10 ears), followed by sensorineural hearing loss (in five ears), with mixed hearing loss in only one ear. The impairment of the hearing loss ranged from mild to moderate, with one case of profound loss.

Conclusions The results show a higher frequency of conductive hearing loss among individuals with the oculo-auriculo-vertebral spectrum phenotype, especially moderate loss affecting the right side. Furthermore, research in auditory thresholds in the oculo-auriculo-vertebral spectrum is important in speech therapy findings about the disease to facilitate early intervention for possible alterations.

Keywords

Goldenhar syndrome - hearing - speech - language and hearing science

• References

• 1 Lima FT, Araújo CB, Sousa EC, Chiari BM. Alterações fonoaudiológicas em um caso de síndrome de Goldenhar. Rev Soc Bras Fonoaudiol 2007; 12 (2) 141-145
• 2 Almeida LMC, Diniz MS, Diniz LS. Do you know this syndrome?. An Bras Dermatol 2012; 87 (3) 495-497
• 3 Paixão MP, Miot HA. Do you know this syndrome?. An Bras Dermatol 2007; 82 (3) 273-276
• 4 Taksande A, Vilhekar K. Oculoauriculovertebral spectrum with radial anomaly in child. J Family Med Prim Care 2013; 2 (1) 92-94
• 5 Miller TD, Metry D. Multiple accessory tragi as a clue to the diagnosis of the oculo-auriculo-vertebral (Goldenhar) syndrome. J Am Acad Dermatol 2004; 50 (2, Suppl): S11-S13
• 6 Busanello AR, Silva AMT, Christmann MK , et al. Síndrome de goldenhar: uma abordagem fonoaudiológica. Rev CEFAC 2012; 14 (3) 566-573
• 7 Rosa RFM, Dall'agnol L, Zen PRG, Pereira VLB, Graziadio C, Paskulin GA. Oculo-auriculo-vertebral spectrum and cardiac malformations. Rev Assoc Med Bras 2010; 56 (1) 62-66
• 8 Skarzyński H, Porowski M, Podskarbi-Fayette R. Treatment of otological features of the oculoauriculovertebral dysplasia (Goldenhar syndrome). Int J Pediatr Otorhinolaryngol 2009; 73 (7) 915-921
• 9 Rosa RFM, Silva AP, Goetze TB , et al. Ear abnormalities in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome). Braz J Otorhinolaryngol 2011; 77 (4) 455-460
• 10 Strömland K, Miller M, Sjögreen L , et al. Oculo-auriculo-vertebral spectrum: associated anomalies, functional deficits and possible developmental risk factors. Am J Med Genet A 2007; 143A (12) 1317-1325
• 11 Davis H, Silverman RS. Hearing and Deafness. 4th ed. New York: Holt, Rinehart and Winston; 1970
• 12 Menegotto IH. Logoaudiometria básica. In: Bevilacqua MC, Martinez MAN, Balen SA, Pupo AC, Reis ACM, Frota S, (eds). Tratado de Audiologia. São Paulo, Brazil: Santos; 2012: 81-99
• 13 Rosa RF, Graziadio C, Lenhardt R, Alves RP, Paskulin GA, Zen PRG. Central nervous abnormalities in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome). Arq Neuropsiquiatr 2010; 68 (1) 98-102
• 14 Bisdas S, Lenarz M, Lenarz T, Becker H. Inner ear abnormalities in patients with Goldenhar syndrome. Otol Neurotol 2005; 26 (3) 398-404
• 15 Engiz O, Balci S, Unsal M, Ozer S, Oguz KK, Aktas D. 31 cases with oculoauriculovertebral dysplasia (Goldenhar syndrome): clinical, neuroradiologic, audiologic and cytogenetic findings. Genet Couns 2007; 18 (3) 277-288
• 16 Cárrion M, Cardona G. Goldenhar syndrome with moderate hearing loss: An FM system in a school environment. Int J Pediatr Otohinolaryngol 2011; 6 (11) 178-181
• 17 Scholtz AW, Fish III JH, Kammen-Jolly K , et al. Goldenhar's syndrome: congenital hearing deficit of conductive or sensorineural origin? Temporal bone histopathologic study. Otol Neurotol 2001; 22 (4) 501-505
• 18 Brosco KC, Zorzetto NL, Costa AR. Perfil Audiológico de indivíduos portadores da syndrome de Goldenhar. Rev Bras Otorrinolaringol 2004; 70 (5) 645-649