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Case Reports
. 2014 Apr;8(4):ZD17-9.
doi: 10.7860/JCDR/2014/7926.4260. Epub 2014 Apr 15.

Goldenhar syndrome - review with case series

C Seethalakshmi Ashokan  1 , Arathi Sreenivasan  2 , Gopal K Saraswathy  3
Affiliations
Case Reports

Goldenhar syndrome - review with case series

C Seethalakshmi Ashokan et al. J Clin Diagn Res. 2014 Apr.

Abstract

Goldenhar's syndrome is a rare condition which was described initially in the early 1950s. It is characterized by a combination of anomalies: dermal epibulbar cysts, auricular appendices and malformations of the ears. In 1963, Gorlin suggested the name, oculo-auriculo-vertebral (OAV) dysplasia for this condition and he also included vertebral anomalies as signs of this syndrome. The aetiology of this rare disease has not been fully understood, as it has shown itself to be variable genetically and to be caused due to unclear reasons. Here, we are reporting two cases of Goldenhar's syndrome, where almost all the classical signs of this rare condition were present.

Keywords: Auricular appendices; Deformity; Goldenhar’s syndrome; Oculo-auriculo-vertebral.

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Figures

[Table/Fig-1a-e]:
[Table/Fig-1a-e]:
Case 1 clinical picture
[Table/Fig-2a-d]:
[Table/Fig-2a-d]:
Case 1 radiological picture
[Table/Fig-3a-d]:
[Table/Fig-3a-d]:
Case 2 clinical picture
[Table/Fig-4a-c]:
[Table/Fig-4a-c]:
Case 2 radiological picture
See this image and copyright information in PMC

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References

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