Goldenhar syndrome: Report of two cases with review of literature

• Published in: Chrismed journal of health and research Vol. 5; no. 1; pp. 67 - 71
• Main Authors: Madiyal, Ananya, Babu, Subhas, Ajila, Vidya, Madi, Medhini, Bhat, Supriya
• Format: Journal Article
• Language: English
• Published: Wolters Kluwer India Pvt. Ltd 01-01-2018; Wolters Kluwer Medknow Publications
• Subjects: anomalies; Goldenhar; occulo-auriculo-vertebral; syndrome; occulo-auriculo-vertebral; Goldenhar; syndrome; anomalies
• ISSN: 2348-3334; 2348-506X
• DOI: 10.4103/cjhr.cjhr_55_17

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.