Goldenhar Syndrome - Review with Case Series

• Main Authors: C Seethalakshmi Ashokan, Arathi Sreenivasan, Gopal K Saraswathy
• Format: Article
• Language: English
• Published: JCDR Research and Publications Private Limited 2014-04-01
• Series: Journal of Clinical and Diagnostic Research
• Subjects: deformity; oculo-auriculo-vertebral; goldenhar’s syndrome; auricular appendices
• Online Access: https://jcdr.net/articles/PDF/4260/7926_CE(Ra)_E(C)_F(H)_PF1(PAK)_PFA(P)_PF2(PP)_PF3(PN).pdf
• ISSN: 2249-782X; 0973-709X

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.