Isolated Oculo-auricular Manifestations in Goldenhar Syndrome: A Case Series of Three Paediatric Patients

Goldenhar Syndrome (GS), also known as the Oculo-Auriculo-Vertebral Spectrum (OAVS), is a rare congenital disorder characterised by variable craniofacial and ocular anomalies due to aberrant development of the first and second branchial arches. This case series describes three paediatric patients who exhibited diverse phenotypic features of the syndrome, highlighting its clinical heterogeneity and the importance of individualised management. All three patients presented with epibulbar dermoids since birth, an ocular hallmark of GS. The first patient, a 12-year-old female, had a limbal dermoid, medial canthal swelling suggestive of nasolacrimal duct obstruction, a symblepharon, and microtia with preauricular tags. She was advised dacryocystorhinostomy and excision of the dermoid but was lost to follow-up. The second patient, a 15-year-old had a reddish limbal mass extending to the lateral canthus and preauricular tags, and a cosmetic symblepharon release was advised. The third patient, a 15-year-old had a non-progressive limbal dermoid with no significant adnexal involvement and was managed conservatively. None of the patients had associated spinal, cardiac, or neurological anomalies on systemic evaluation. This case series reinforces the phenotypic variability of GS and underscores the importance of early ophthalmic diagnosis, systemic screening, and a multidisciplinary approach to optimise functional and cosmetic outcomes in affected children.

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Publication Details

Journal
JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH
Published
2025-11-05
DOI
https://doi.org/10.7860/jcdr/2025/81684.22138
Primary Topic
Craniofacial Disorders and Treatments
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article
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article

Isolated Oculo-auricular Manifestations in Goldenhar Syndrome: A Case Series of Three Paediatric Patients

Vishakha Vatkar, Shreya Gandhi, Pradipta P Potdar, Rutuja Patil et al.
JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH
Craniofacial Disorders and Treatments
article

Isolated Oculo-auricular Manifestations in Goldenhar Syndrome: A Case Series of Three Paediatric Patients

Vishakha Vatkar, Shreya Gandhi, Pradipta P Potdar, Rutuja Patil, Lokisha Chandwani
article en

Abstract

Goldenhar Syndrome (GS), also known as the Oculo-Auriculo-Vertebral Spectrum (OAVS), is a rare congenital disorder characterised by variable craniofacial and ocular anomalies due to aberrant development of the first and second branchial arches. This case series describes three paediatric patients who exhibited diverse phenotypic features of the syndrome, highlighting its clinical heterogeneity and the importance of individualised management. All three patients presented with epibulbar dermoids since birth, an ocular hallmark of GS. The first patient, a 12-year-old female, had a limbal dermoid, medial canthal swelling suggestive of nasolacrimal duct obstruction, a symblepharon, and microtia with preauricular tags. She was advised dacryocystorhinostomy and excision of the dermoid but was lost to follow-up. The second patient, a 15-year-old had a reddish limbal mass extending to the lateral canthus and preauricular tags, and a cosmetic symblepharon release was advised. The third patient, a 15-year-old had a non-progressive limbal dermoid with no significant adnexal involvement and was managed conservatively. None of the patients had associated spinal, cardiac, or neurological anomalies on systemic evaluation. This case series reinforces the phenotypic variability of GS and underscores the importance of early ophthalmic diagnosis, systemic screening, and a multidisciplinary approach to optimise functional and cosmetic outcomes in affected children.

JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH
Openalex Percentile: Top 65%
Craniofacial Disorders and Treatments
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Isolated Oculo-auricular Manifestations in Goldenhar Syndrome: A Case Series of Three Paediatric Patients — Vishakha Vatkar, Shreya Gandhi, et al. · JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH (2025) | TGRS Research Map | TGRS