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.
Authors
- Vishakha Vatkar
- Shreya Gandhi
- Pradipta P Potdar
- Rutuja Patil
- Lokisha Chandwani
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
- Type
- article
- Field-Weighted Citation Impact
- 0.00