# Goldenhar Syndrome and Surgical Reconstruction: A Case Report of Bilateral Complete Eyelid Colobomas in a 2-Day-Old Patient

**Authors:** Rawan S. Utt, Suad M. Udwan, Waed Amro, Safaa Abatli, Saja Saadeh Issa, Bashar M. Y. Jaber

PMC · DOI: 10.1155/crop/6640462 · Case Reports in Ophthalmological Medicine · 2025-03-21

## TL;DR

A 2-day-old infant with Goldenhar Syndrome underwent surgery for rare eyelid defects, showing some improvement in eye health.

## Contribution

This case report presents a rare manifestation of Goldenhar Syndrome with bilateral complete eyelid colobomas and their surgical management.

## Key findings

- The patient showed varying degrees of improvement in corneal conditions after surgical interventions.
- Tailored surgical approaches are essential for managing complex ocular manifestations of Goldenhar Syndrome.
- Ongoing follow-up and further surgeries are needed to optimize visual outcomes and address complications.

## 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.

## Linked entities

- **Diseases:** Goldenhar syndrome (MONDO:0015397)

## Full-text entities

- **Diseases:** congenital anomalies (MESH:D000013), renal and cardiac problems (MESH:D006331), Franceschetti-GS (MESH:D006053), Eyelid Colobomas (MESH:C000721288)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

5 figures with captions in the complete paper: https://tomesphere.com/paper/PMC11952912/full.md

## References

18 references — full list in the complete paper: https://tomesphere.com/paper/PMC11952912/full.md

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Source: https://tomesphere.com/paper/PMC11952912