Goldenhar syndrome: Report of two cases with review of literature

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 ta...

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Bibliographic Details
Published in:Chrismed journal of health and research 2018-01, Vol.5 (1), p.67-71
Main Authors: Madiyal, Ananya, Babu, Subhas, Ajila, Vidya, Madi, Medhini, Bhat, Supriya
Format: Article
Language:English
Subjects:
anomalies
Goldenhar
occulo-auriculo-vertebral
syndrome
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Summary: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.
ISSN:2348-3334
2348-506X
DOI:10.4103/cjhr.cjhr_55_17