Marek Porowski 1, A-B,E-F
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Oto-Rhino-Laryngology Surgery Clinic, World Hearing Centre, Institute of Physiology and Pathology of Hearing, Warsaw/Kajetany, Poland
Heart Failure and Cardiac Rehabilitation, Department of the Medical University of Warsaw, Poland
Institute of Sensory Organs, Warsaw/Kajetany, Poland
A - Research concept and design; B - Collection and/or assembly of data; C - Data analysis and interpretation; D - Writing the article; E - Critical revision of the article; F - Final approval of article;
Publication date: 2019-03-31
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Marek Porowski   

Marek Porowski, M.D., Ph.D., World Hearing Center of the Institute of Physiology and Pathology of Hearing ul. Mokra 17, Kajetany n. Warsaw, 05-830 Nadarzyn, Poland, e-mail:
J Hear Sci 2019;9(1):9-13
This paper reviews the literature on patients with oculoauriculovertebral dysplasia (OAVD, Goldenhar syndrome) in the context of methods to improve their hearing, an area of interest to otorhinolaryngologists, audiologists, and phoniatrists. The papers reviewed describe individual cases and groups of patients diagnosed with the syndrome. They are of interest due to the range of therapeutic approaches used and the percentage of favourable results. The available literature is sparse, particularly in terms of improving hearing in OAVD. In these patients, degrees of hearing loss or deafness are major problems resulting from complex external, middle, and inner ear defects, which can also lead to speech development disorders. There is therefore a need for a closer look at the syndrome, including how to identify patients, indications for surgical treatment, use of other methods to improve hearing, and methods of rehabilitation.
Goldenhar M. Associations malformatives de l’oeil et de l’oreille, en particulier le syndrome dermoide epibulbaire-appendices auriculaires-fistula auris congenita et ses relations avec la dysostose mandibulo-faciale. Journal de Genetique Humaine (Geneve), 1952; 1: 243–82.
Von Arlt FR. Klinische Darstellung der Krankheiten des Auges zunächst der Binde-, Horn- und Lederhaut dann des Ciliarkörpers. Wilhelm Braumüller, Wien 1881.
Gorlin RJ, Jue KL, Jacobsen V, Goldschmidt E. Oculoauriculovertebraldysplasia. J Pediatr, 1963; 63: 991–9.
Mansour AM, Wang F, Henkind P, Goldberg R, Shprintzen R. Ocular findings in the facioauriculovertebral sequence (Goldenhar–Gorlin syndrome). Am J Ophthalmol, 1985 Oct 4; 100: 555-9.
Anderson PJ, David DJ. Spinal anomalies in Goldenhar syndrome. Cleft Palate Craniofac J, 2005 Sep 5; 42: 477-80.
Lam CH. A theory on the embryogenesis of oculo-auriculo-vertebral (Goldenhar) syndrome. J Craniofac Surg, 2000 Nov; 11(6): 547-52.
Tasse C, Majewski F, Bohringer S, Fischer S, Ludecke HJ, Gillessen-Kaesbach G, Wieczorek D. A family with autosomal dominant oculo-auriculo-vertebral spectrum. Clin Dysmorphol, 2007 Jan 1; 16: 1-7.
Verona LL, Damian NG, Pavarina LP, Ferreira CH, Melo DG. Monozygotic twins discordant for Goldenhar syndrome. J Pediatr (Rio J), 2006 Jan–Feb; 82(1): 75-8.
Cullins SL, Pridjian G, Sutherland CM. Goldenhar’s syndrome associated with tamoxifen given to the mother during gestation. JAMA, 1994; 271: 1905-6.
Lessick M, Vasa J, Israel R. Severe manifestations of oculoauriculovertebral spectrum in a cocaine-exposed infant. J Med Genet, 1991; 28: 803-4.
Poswillo D. The pathogenesis of the first and second branchial arch syndrome. Oral Surg Oral Med Oral Pathol, 1973 Mar; 35(3): 302-28.
Soltan HC, Holmes LB. Familial occurrence of malformations possibly attributable to vascular abnormalities. J Pediatr, 1986 Jan; 108(1): 112-4.
Goret-Nicaise M, Baertz G, Saussoy P, Dhem A. Oculo-auriculo-vertebral spectrum: cranial and vertebral malformations due to focal disturbed chondrogenesis. J Craniofac Genet Dev Biol, 1997 Jan-Mar; 17(1): 35-42.
Mellor DH, Richardson JE, Douglas DM. Goldenhar’s syndrome. Oculoauriculo-vertebral dysplasia. Arch Dis Child, 1973 Jul; 48(7): 537-41.
Muñoz-Pedroza LA, Arenas-Sordo ML. Clinical features of 149 patients with facio-auriculo-vertebral spectrum. Acta Otorrinolaringol Esp, 2013 Sep-Oct; 64(5): 359-62.
Pegler JR, Soares DC, Quaio CR, Fernandes N, Oliveira LA, Honjo RS, Bertola DR, Kim CA. Clinical description of 41 Brazilian patients with oculo-auriculo-vertebral dysplasia. Rev Assoc Med Bras, 2016 May-Jun; 62(3): 202-6.
Bisdas S, Lenarz M, Lenarz T, Becker H. Inner ear abnormalities in patients with Goldenhar syndrome. Otol Neurotol, 2005 May; 26(3): 398-404.
Phelps PD, Lloyd GA, Poswillo DE. The ear deformities in craniofacial microsomia and oculo-auriculo-vertebral dysplasia. J Laryngol Otol, 1983 Nov; 97(11): 995-1005.
Carvalho GJ, Song CS, Vargervik K, Lalwani AK. Auditory and facial nerve dysfunction in patients with hemifacial microsomia. Arch Otolaryngol Head Neck Surg, 1999 Feb; 125(2): 209-12.
Sleifer P, Gorsky NdeS, Goetze TB, Rosa RF, Zen PR. Audiological findings in patients with oculo-auriculo-vertebral spectrum. Int Arch Otorhinolaryngol, 2015 Jan; 19(1): 5-9.
Yanagihara N, Yanagihara H, Kabasawa I. Goldenhar’s syndrome associated with anomalous internal auditory meatus. J Laryngol Otol, 1979 Dec; 93(12): 1217-22.
Scholtz AW, Fish JH, Kammen-Jolly K, Ichiki H, Hussl B, Kreczy A, Schrott-Fischer A. Goldenhar’s syndrome: congenital hearing deficit of conductive or sensorineural origin temporal bone histopathologic study. Otol Neurotol, 2001; 22: 501–5.
Goetze TB, Sleifer P, Rosa RF, da Silva AP, Graziadio C, Zen PR. Hearing characterization in oculoauriculovertebral spectrum: a prospective study with 10 patients. Am J Med Genet A, 2017 Feb; 173(2): 309-14.
Cohen MS, Samango-Sprouse CA, Stern HJ, Custer DA, Vaught DR, Saal HM, Tifft CJ, Rosenbaum KN. Neurodevelopmental profile of infants and toddlers with oculo-auriculo-vertebral spectrum and the correlation of prognosis with physical findings. Am J Med Genet, 1995 Dec 18; 60(6): 535-40.
Skarzyński H, Porowski M, Podskarbi-Fayette R. Treatment of otological features of the oculoauriculovertebral dysplasia (Goldenhar syndrome). Int J Pediatr Otorhinolaryngol, 2009 Jul; 73(7): 915-21.
Santarelli G, Redfern RE, Benson AG. Bone-anchored hearing aid implantation in a patient with Goldenhar syndrome. Ear Nose Throat J, 2015 Dec; 94(12): E1-3.
Arunachalam PS, Kilby D, Meikle D, Davison T, Johnson IJ. Boneanchored hearing aid quality of life assessed by Glasgow Benefit Inventory. Laryngoscope, 2001 Jul; 111(7): 1260-3.
Bouhabel S, Arcand P, Saliba I. Congenital aural atresia: boneanchored hearing aid vs. external auditory canal reconstruction. Int J Pediatr Otorhinolaryngol, 2012 Feb; 76(2): 272-7.
Isaiah A, Lee D, Lenes-Voit F, Sweeney M, Kutz W, Isaacson B, Roland P, Lee KH. Clinical outcomes following cochlear implantation in children with inner ear anomalies. Int J Pediatr Otorhinolaryngol, 2017 Feb; 93: 1-6.
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