Oculo-Auriculo-Vertebral Syndrome – A Rare Case Report
Year: 2025
Type: article
Study design: Case Report
Abstract: Goldenhar syndrome (GS) also known as “oculo-auriculo-vertebral (OAV) syndrome” is a rare congenital defect characterized by incomplete development of the ear, nose, soft palate, lip, and mandible on usually one side of the body. It is associated with anomalous development of the first branchial arch and second branchial arch. It is considered a rare disease and a congenital one, meaning it is present at birth. The condition also causes spine and ribcage abnormalities and problems with the heart, kidney, lungs, and nervous system. Children with GS usually do as well as other kids in school. The exact etiology is unknown. Most of the cases have been sporadic. This paper presents a rare case of GS in a 4-year-old male child who presented with the typical features.
Source: Indian Journal of Otology
Authors: Kalaiselvi Ravishankar, K. Saraswathi Gopal, C. Narmadha
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: hybrid
OpenAlex ID: W4414540875