Title: Goldenhar Syndrome –A Rare Case Report
Authors: Piyush Bajaj, Neha Chandrakar, Anusha Pawar, Sonam Mahajan
DOI: https://dx.doi.org/10.18535/jmscr/v5i8.56
Abstract
Goldenhar Syndrome or oculo auriculo vertebral spectrum is a complex syndrome characterized by an association of maxillomandibular hypoplasia, deformity of the ear, ocular dermoid and vertebral anomalies and the most severe form of hemifacial microsomia. We report a case of a 7 year old male child presented to us with bilateral epibulbar dermoids, mild conductive deafness, preauricular tags and operated cleft lip.
Keywords: Goldenhar syndrome, accessory tragus, oculo auriculo vertebral dysplasia.
References
- Von Arlt F. Clinical presentation of diseases of the eye.1st ed. Vienna: Braumuller publications; 1881.
- Goldenhar M. Associated malformations of eye and ear, particularly dermoid syndrome epibulbar-appendices, congenital auricular fistulas and its relations with Manibulofacial Dysostosis. J Genet Hum. 1952;1:243–82.
- Gorlin RJ, Jue KL, Jacobsen U, Goldschmidt E. Oculoauriculovertebral dysplasia. J Pediatr. 1963;63:991–9.
- Santos DT, Miyazaki O, Cavalcanti MG. Clinical-embryological and radiological correlations of oculo-auriculo-vertebral spectrum using 3D-CT. Dentomaxillofac Radiol. 2003;32:8–14.
- Bielicka B, Necka A, Andrych M. Interdisciplinary treatment of patients with Goldenhar Syndrome – Clinical reports. Dent Med Probl. 2006;43:458–62.
- Tuna EB, Orino D, Ogawa K, Yildirim M, Seymen F, Gencay K, et al. Craniofacial and dental characteristics of Goldenhar Syndrome: A report of two cases. J Oral Sci. 2011;53:121–4.
- Kulkarni V, Shah MD, Parikh A. Goldenhar Syndrome (a case report) J Postgrad Med. 1985;31:177-9.
- 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;50:11–3.
- Kapur R, Kapur R, Sheikh S, Jindal S, Kulkarni S. Hemifacial microsomia: A case report. J Indian Soc Pedod Prev Dent. 2008;26:34–40
- Mehta B, Nayak C, Savant S, Amladi S. Goldenhar syndrome with unusual features. Indian J Dermatol Venereol Leprol. 2008;74:254–6
- Treacher Collins syndrome is associated with maxillary and mandibular hypoplasia but is not associated with ocular and aural anomalies.[2]
- Kulkarni V, Shah MD, Parikh A. Goldenhar syndrome: A case report. J Postgrad Med. 1985;31:177–9
- Kokavec R. Goldenhar syndrome with various clinical manifestations. Cleft Palate Craniofac J. 2006; 43: 628-634.
- Tasse C, Majewski F, Böhringer S, Fischer S, Lüdecke HJ, GillessenKaesbach G, et al. A family with autosomal dominant oculo-auriculovertebral spectrum. Clin Dysmorphol. 2007; 16: 1-7.
- Bekibele CO, Ademola SA, Amanor-Boadu SD, Akang EE, Ojemakinde KO. Goldenhar syndrome: a case report and literature review. West Afr J Med. 2005; 24: 77-80.
- Mellor DH, Richardson JE, Douglas DM. Goldenhar’s syndrome. Oculoauriculo-vertebral dysplasia. Arch Dis Child. 1973; 48: 537-541
- Sinha S, Singh AK, Mehra A, Singh R (2015) Goldenhar Syndrome – A Literature Review. JSM Dent 3(1): 1052.
- Tasse C, Majewski F, Böhringer S, Fischer S, Lüdecke HJ, GillessenKaesbach G, et al. A family with autosomal dominant oculo-auriculovertebral spectrum. Clin Dysmorphol. 2007; 16: 1-7. 7.
- Bekibele CO, Ademola SA, Amanor-Boadu SD, Akang EE, Ojemakinde KO. Goldenhar syndrome: a case report and literature review. West Afr J Med. 2005; 24: 77-80. 8.
- Baum JL, Feingold M. Ocular aspects of Goldenhar’s syndrome. Am J Ophthalmol. 1973; 75: 250-257. 9.
- De Golovine S, Wu S, Hunter JV, Shearer WT. Goldenhar syndrome: a cause of secondary immunodeficiency? Allergy Asthma Clin Immunol. 2012; 8: 10.
- Caccamese JF JR,Costello BJ, Mooney MP. Novel deformity of the mandible in oculo-auriculo-vertebral spectrum: case report and literature review. J Oral Maxillofac Surg. 2006; 64: 1278-1282.
- Johnston MC, Bronsky PT: Prenatal craniofacial development: New insights on normal and abnormal mechanisms. Crit Rev Oral Biol Med 1995; 6: 368-370
- Pinheiro AL, Araújo LC, Oliveira SB, Sampaio MC, Freitas AC. Goldenhar’s syndrome--case report. Braz Dent J. 2003; 14: 67-70
- Derbent M, Orun UA, Varan B, Mercan S, Yilmaz Z, Sahin FI, Tokel K. A new syndrome within the oculo-auriculo-vertebral spectrum: microtia, atresia of the external auditory canal, vertebral anomaly, and complex cardiac defects. Clin Dysmorphol. 2005; 14; 27-30.
- Jogendra SSA, Bandi S, Akkla SG, Chinta M. Oral Rehabilitation of a Child with Goldenhar syndrome. Journal of Young Pharmacists 2015; 7: 276-280.
- Costa CF, Rusu C, Ivanescu CG, Dumitras S, Dimitria G, Cucu A, et al. Goldenhar Syndrome. J Clin Res Ophthalmol 2015; 2:041-044.
- Aleksi S, Budzilovich G, Reuben R, Feigin I, Finegold M, MccarthyJ, et al. Congenital trigeminal neuropathy in oculoauriculovertebral dysplasia-hemifacialmicrosomia (Goldenhar-Gorlin syndrome). J Neurol Neurosurg Psychiatry. 1975; 38: 1033-1035.
- Al Kaissi A, Ben Chehida F, Ganger R, Klaushofer K, Grill F. Distinctive spine abnormalities in patients with Goldenhar syndrome: tomographic assessment. Eur Spine J. 2015; 24: 594-599.
- Pirouzian A. Management of pediatric corneal limbal dermoids. Clinical Ophthalmology (Auckland, NZ). 2013;7:607-614.
