An oculo-auriculo-vertebral spectrum: A radiological case report and literature review of Goldenhar syndrome with hemifacial microsomia

Goldenhar syndrome, or the oculo-auriculo-vertebral syndrome, is an uncommon congenital condition associated with a broad range of anomalies involving the craniofacial structures, typically unilateral, and the vertebrae, but may also show systemic involvement. Many times, the syndrome may be diagnosed late or misdiagnosed due to overlapping features with other congenital syndromes, commonly the Treacher-Collins syndrome. This case report highlights a 6-year-old child who presented with classical features of hemifacial microsomia with vertebral anomalies and summarizes the features seen in Goldenhar syndrome to achieve a prompt radiological diagnosis.

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Publication Details

Journal
Journal of Case Reports and Scientific Images
Published
2025-01-01
DOI
https://doi.org/10.22271/27080056.2025.v7.i1c.121
Primary Topic
Craniofacial Disorders and Treatments
Type
article
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article

An oculo-auriculo-vertebral spectrum: A radiological case report and literature review of Goldenhar syndrome with hemifacial microsomia

Anagha Joshi, Nitin Mahajan, Simran Thanvi
2 links
Journal of Case Reports and Scientific Images
Craniofacial Disorders and Treatments
article

An oculo-auriculo-vertebral spectrum: A radiological case report and literature review of Goldenhar syndrome with hemifacial microsomia

Anagha Joshi, Nitin Mahajan, Simran Thanvi
article en

Abstract

Goldenhar syndrome, or the oculo-auriculo-vertebral syndrome, is an uncommon congenital condition associated with a broad range of anomalies involving the craniofacial structures, typically unilateral, and the vertebrae, but may also show systemic involvement. Many times, the syndrome may be diagnosed late or misdiagnosed due to overlapping features with other congenital syndromes, commonly the Treacher-Collins syndrome. This case report highlights a 6-year-old child who presented with classical features of hemifacial microsomia with vertebral anomalies and summarizes the features seen in Goldenhar syndrome to achieve a prompt radiological diagnosis.

Journal of Case Reports and Scientific ImagesVol. 7(1)
Openalex Percentile: Top 86%
Craniofacial Disorders and Treatments
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