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在Goldenhar,Rubinstein-Taybi和外皮-外皮直径-切割综合征中存在眼排水异常

Nandini Bothra¹, Purva Agarwal¹, Mohammad Javed Ali¹

¹Govindram Seksaria Institute of Dacryology, L.V. Prasad Eye Institute, Hyderabad, India.

Seminars in ophthalmology

|May 22, 2024

概括

这项研究详细介绍了Goldenhar综合征,鲁宾斯坦-泰比综合征 (RTS) 和外皮-外皮切裂综合征 (EECS) 中的眼排水异常. 对评估和管理的结构化方法为受影响的儿童带来了积极的结果.

科学领域:

眼科医生眼科眼科
遗传学遗传学是一个
儿科儿科儿科

背景情况:

面形可能会显著影响鼻液排水系统.
像Goldenhar,Rubinstein-Taybi (RTS) 和Ectodermal-Ectrodactyly-Clefting (EECS) 这样的综合征与复杂的眼科疾病有关.
了解这些关联对于及时诊断和干预至关重要.

研究的目的:

为了全面描述在患有Goldenhar综合征,RTS和EECS的患者眼排水系统异常.
审查有关这些疾病的管理和结果的现有文献.
为改善临床管理策略奠定基础.

主要方法:

从2011年1月到2023年6月,对患者进行了回顾性图表审查,这些患者从2011年1月到2023年6月出现在达克里奥拉基诊所.
数据收集包括人口统计,横向性,临床表现,眼排水异常 (近位和远位) 以及相关的系统特征.
对管理策略和患者结果的分析.

主要成果:

八名患有Goldenhar综合征的儿童,三名患有RTS,三名患有EECS呈现出眼排水系统的参与.
黄金哈尔综合征病例显示男性占主导地位,平均年龄为14.75个月;常见的问题包括复杂的先天性鼻液管阻塞 (CNLDO).
与Goldenhar综合征和RTS相比,EECS病例表现出更多的近距离眼排水异常,如点性生殖和不完整的点性道化,与Goldenhar综合征和RTS相比.

结论:

眼排水系统的异常是Goldenhar综合征,RTS和EECS的一个重大问题.
在探测过程中内镜指导有助于详细的解剖评估,特别是在鼻子解剖学发生变化的情况下.
一种系统的,逐步的方法来评估和管理这些异常导致大多数受影响儿童的令人满意的结果.

关键词:

黄金哈尔综合征 (Goldenhar综合征) 是一种鲁宾斯坦 - 泰比综合征;外皮 - 外皮直肠 - 裂口综合征;综合症和眼排水系统,眼排水系统,眼

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