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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.

DOI:10.1155/crop/6640462
PMID:40161514
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11952912/
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/cdf6/11952912/5c0a816b81e9/CRIOPM2025-6640462.005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cdf6/11952912/7760884277fa/CRIOPM2025-6640462.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cdf6/11952912/4dc80b0f9afa/CRIOPM2025-6640462.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cdf6/11952912/01730a5a9c68/CRIOPM2025-6640462.003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cdf6/11952912/2d2dda6b6bf3/CRIOPM2025-6640462.004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cdf6/11952912/5c0a816b81e9/CRIOPM2025-6640462.005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cdf6/11952912/7760884277fa/CRIOPM2025-6640462.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cdf6/11952912/4dc80b0f9afa/CRIOPM2025-6640462.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cdf6/11952912/01730a5a9c68/CRIOPM2025-6640462.003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cdf6/11952912/2d2dda6b6bf3/CRIOPM2025-6640462.004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cdf6/11952912/5c0a816b81e9/CRIOPM2025-6640462.005.jpg

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Goldenhar syndrome: surgical management protocol in a reference center.戈尔登哈综合征:一家参考中心的外科治疗方案
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Goldenhar Syndrome: A Case Report with Review.戈尔登哈综合征:一例病例报告及文献复习
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Congenital upper eyelid coloboma: embryologic, nomenclatorial, nosologic, etiologic, pathogenetic, epidemiologic, clinical, and management perspectives.先天性上睑缺损:胚胎学、命名学、疾病分类学、病因学、发病机制、流行病学、临床及治疗方面的观点
Ophthalmic Plast Reconstr Surg. 2015 Jan-Feb;31(1):1-12. doi: 10.1097/IOP.0000000000000347.
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Goldenhar syndrome - review with case series.Goldenhar综合征——病例系列综述
J Clin Diagn Res. 2014 Apr;8(4):ZD17-9. doi: 10.7860/JCDR/2014/7926.4260. Epub 2014 Apr 15.
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Goldenhar-Gorlin's syndrome: A case report.戈尔登哈-戈林综合征:一例报告。
Indian J Otolaryngol Head Neck Surg. 2006 Jan;58(1):97-101. doi: 10.1007/BF02907757.
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Do you know this syndrome?你知道这种综合征吗?
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Craniofacial and dental characteristics of Goldenhar syndrome: a report of two cases.Goldenhar综合征的颅面和牙齿特征:两例报告
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Guidelines for reconstruction of the eyelids and canthal regions.眼睑和眦部区域重建指南。
J Plast Reconstr Aesthet Surg. 2010 Sep;63(9):1420-33. doi: 10.1016/j.bjps.2009.05.035. Epub 2009 Jun 25.
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Congenital heart defects in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome).眼-耳-脊椎综合征(戈尔登哈综合征)患者的先天性心脏缺陷
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