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Year : 2018  |  Volume : 5  |  Issue : 1  |  Page : 67-71

Goldenhar syndrome: Report of two cases with review of literature

Department of Oral Medicine and Radiology, A. B. Shetty Memorial Institute of Dental Sciences, Nitte University, Mangalore, Karnataka, India

Correspondence Address:
Ananya Madiyal
Department of Oral Medicine and Radiology, A. B Shetty Memorial Institute of Dental Sciences, Nitte University, Deralakatte, Mangalore - 575 018, Karnataka
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/cjhr.cjhr_55_17

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Goldenhar syndrome consists of a varied group of malformations that can involve multiple systems of the body. It is believed to be a variant of hemifacial microsomia with ocular and vertebral involvement. Characteristic findings, such as hypoplasia of one half of the face, epibulbar dermoids, ear tags, and spinal cord defects, warrant the name occulo-auriculo-vertebral dysplasia. The syndrome occurs due to imbalance in cells during the blastogenesis period of embryo formation. It is found to involve the derivatives of first and second branchial arches. The condition is apparent at birth, but the phenotype can vary greatly in its severity depending on the activation and expression of the defective gene. Reported here are detailed clinical and radiographic features of two sporadic cases of Goldenhar syndrome in young males. This work mainly highlights the various theories of etiopathogenesis as well as step-wise management protocol for patients diagnosed with the syndrome.

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