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Goldenhar Syndrome and Surgical Reconstruction: A Case Report of Bilateral Complete Eyelid Colobomas in a 2-Day-Old
Rawan S Utt1, Suad M Udwan2, Waed Amro2
1Al-Quds University Research Assistant, Opthalmology Resident at Jordan Hospital University, Amman, Jordan.
Insights
Goldenhar syndrome (GS) can cause rare eye issues like complete eyelid colobomas. This case shows surgical management improved corneal conditions in an infant with GS.
Area of Science:
- Ophthalmology
- Genetics
- Pediatric Surgery
Background:
- Goldenhar syndrome (GS), or Franceschetti-GS, is a congenital disorder with diverse anomalies affecting craniofacial structures, eyes, ears, and vertebrae.
- Bilateral complete eyelid colobomas represent a rare ocular manifestation within the GS spectrum.
- Associated systemic conditions, including renal and cardiac anomalies, frequently complicate GS management.
Abstract:
Goldenhar syndrome (GS), also known as Franceschetti-GS, encompasses a spectrum of congenital anomalies affecting the eyes, ears, face, and vertebrae. This case report highlights a 2-day-old female patient diagnosed with GS presenting a rare manifestation of bilateral complete eyelid colobomas. The patient, with associated renal and cardiac problems, underwent surgical interventions, including bilateral lower lid frost suture tarsorrhaphy and subsequent upper lid reconstructions. Despite challenges and complications, the patient showed varying degrees of improvement in corneal conditions postsurgery. The discussion provides insights into the clinical features, diagnosis, and multidisciplinary management of GS. The presented case emphasizes the importance of tailored surgical approaches in addressing the complex ocular manifestations of GS, aiming for functional and aesthetic outcomes. Ongoing follow-up and further reconstruction surgeries are planned to optimize visual outcomes and address residual complications.
