Year: 2026
Type: article
Study design: Case Report
Abstract: Goldenhar syndrome, is a rare congenital disorder characterized by craniofacial anomalies, auricular malformations, and vertebral defects. We report the case of an 8-month-old female presenting with an ocular mass, which was confirmed to be an epibulbar dermoid. Further evaluation revealed bilateral anotia/microtia and facial asymmetry. Systemic evaluation did not demonstrate vertebral, cardiac, or renal anomalies. Notably, the mother exhibited mild craniofacial anomalies, suggesting a possible familial association. This case highlights the importance of early diagnosis, thorough systemic evaluation, parental counselling, and consideration of recurrence risk and prenatal detection in future pregnancies.
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W7223821164