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Case Studies | Radiology and Medical Imaging Sciences | India | Volume 11 Issue 12, December 2022 | Rating: 4.6 / 10

Goldenhar Syndrome - A Rare Entity

Himanshu Chopra

Abstract: Goldenhar syndrome is a rare congenital anomaly which was first described by Goldenhar in 1952. Goldenhar syndrome is also known as oculo-auriculo-vertebral (OAV) dysplasia. This term oculo-auriculo-vertebral dysplasia was described by Gorlin, Cohen and Levine consisting of spectrum of anomalies ranging from hemifacial microsomia (HFM) to Goldenhar syndrome which also includes epibulbar dermoids and vertebral anomalies. The exact cause of Goldenhar syndrome is unknown however etiology behind this syndrome is considered to be multi-factorial pattern, i. e. combination of gene interactions and environmental factors that affects the development of the first and second pharyngeal arches during the first trimester of pregnancy. We reported a patient with this complex, rare congenital anomaly in our radiology department in which all classical findings of goldenhar syndrome were present. Findings of this syndrome are presented here.

Keywords: Oculo-Auriculo-Vertebral, OAV, syndrome, Goldenhar-Gorlin syndrome

Edition: Volume 11 Issue 12, December 2022,

Pages: 348 - 349