[Goldenhar syndrome]

Abstract

Summary Goldenhar syndrome is a condition characterized by alterations involving the development of the structures of the first and second branchial arches. The abnormalities primarily affect the face, the eyes, the spine, and the ears, and the auricular abnormalities are associated with possible hearing loss. Here, we present a review of the literature on Goldenhar syndrome, discussing what is known about the clinical phenotype , the aetiology, audiological findings and treatment,in order to provide certain help for people about disease diagnosis, genetic counseling and hearing intervention.

Keywords: Goldenhar syndrome; clinical phenotype; ear deformities; genetic counseling; hearing; the aetiology.