Oculo-Auriculo-Vertebral Syndrome – A Rare Case Report

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.

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Publication Details

Journal
Indian Journal of Otology
Published
2025-09-26
DOI
https://doi.org/10.4103/indianjotol.indianjotol_31_23
Primary Topic
Craniofacial Disorders and Treatments
Type
article
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article

Oculo-Auriculo-Vertebral Syndrome – A Rare Case Report

K. V. Ravishankar, K. Saraswathi Gopal, C. Narmadha
Indian Journal of Otology
Craniofacial Disorders and Treatments
article

Oculo-Auriculo-Vertebral Syndrome – A Rare Case Report

K. V. Ravishankar, K. Saraswathi Gopal, C. Narmadha
article en

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.

Indian Journal of OtologyVol. 31(4)
Tamil Nadu Dr. M.G.R. Medical University (IN), Meenakshi Ammal Dental College and Hospital (IN)
Openalex Percentile: Top 72%
Craniofacial Disorders and Treatments
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