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

IF 0.4 Q4 OPHTHALMOLOGY Case Reports in Ophthalmological Medicine Pub Date : 2025-03-21 eCollection Date: 2025-01-01 DOI:10.1155/crop/6640462
Rawan S Utt, Suad M Udwan, Waed Amro, Safaa Abatli, Saja Saadeh Issa, Bashar M Y Jaber
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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.

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Goldenhar综合征与手术重建术:2日龄双侧完全性眼睑缺损1例报告。
Goldenhar综合征(GS),也被称为Franceschetti-GS,包括一系列影响眼睛、耳朵、面部和椎骨的先天性异常。本病例报告强调了一名2天大的女性患者,诊断为GS,表现为罕见的双侧全眼睑结肠瘤。患者伴有相关的肾脏和心脏问题,接受了手术干预,包括双侧下眼睑冷冻缝合和随后的上眼睑重建。尽管面临挑战和并发症,患者术后角膜状况有不同程度的改善。讨论提供了对GS的临床特征,诊断和多学科管理的见解。本病例强调了在解决GS复杂的眼部表现时量身定制手术方法的重要性,旨在实现功能和美学结果。正在进行的随访和进一步的重建手术计划,以优化视力结果和解决残余并发症。
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