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戈尔登哈综合征与外科重建:一名2日龄患者双侧完全性眼睑缺损的病例报告

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

作者信息

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

机构信息

Al-Quds University Research Assistant, Opthalmology Resident at Jordan Hospital University, Amman, Jordan.

Faculty of Medicine, Al-Quds University, Hebron, State of Palestine.

出版信息

Case Rep Ophthalmol Med. 2025 Mar 21;2025:6640462. doi: 10.1155/crop/6640462. eCollection 2025.

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.

摘要

戈尔登哈综合征(GS),也称为弗朗切斯科蒂-戈尔登哈综合征,包括一系列影响眼睛、耳朵、面部和脊椎的先天性异常。本病例报告重点介绍了一名2日龄被诊断为GS的女性患者,其表现为罕见的双侧完全性眼睑缺损。该患者伴有肾脏和心脏问题,接受了手术干预,包括双侧下睑霜样缝合睑裂缝合术及随后的上睑重建术。尽管存在挑战和并发症,但患者术后角膜状况有不同程度的改善。讨论部分提供了关于GS的临床特征、诊断和多学科管理的见解。所呈现的病例强调了采用定制手术方法处理GS复杂眼部表现的重要性,目标是实现功能和美学效果。计划进行持续随访和进一步的重建手术,以优化视觉效果并处理残余并发症。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cdf6/11952912/7760884277fa/CRIOPM2025-6640462.001.jpg

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