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新生儿双侧眼:多系统异常和诊断挑战的综合征表现

Mira Hallak¹, Baraa Emran¹, Fathi Milhem¹

¹Department of Medicine, An Najah National University, Nablus, Palestine.

Oxford medical case reports

|August 22, 2025

概括

这项案例研究突出了一个双侧眼 (罕见的先天性缺陷) 和其他异常的新生儿,强调在综合征病例中需要进行遗传检测和多学科护理.

科学领域:

医学遗传学
儿童医学
发育生物学

背景情况:

眼睛缺陷是一种罕见的先天性缺陷,影响眼部组织的发育,每1万~2万个活产儿中就会发生1例.
它通常与遗传综合征,环境因素或多因素相关.
综合性眼症带来了复杂的医疗挑战, 需要专门的护理.

研究的目的:

一个新生儿患有双侧眼和多种先天性异常.
为了说明及时诊断和遗传评估在综合性眼症的重要性.
强调需要多学科的方法来处理复杂的先天性缺陷.

主要方法:

一个新生儿患有双侧眼, 模两可的生殖器,
对临床表现,诊断成像和遗传因素的审查.
提供多学科护理的描述.

主要成果:

新生儿出现了一系列异常,
尽管进行了多学科的密集治疗, 但患者出现严重的并发症,
这一案例突出了与严重的先天性异常相关的诊断和管理挑战.

结论:

早期诊断眼和相关综合征至关重要,依赖于及时的成像和遗传确认.
管理需要协调,多学科的方法来解决复杂的医疗和心理社会需求.
这一案例凸显了基因检测在理解和管理综合性眼症方面的关键作用.

关键词:

没有眼睛一个先天的异常基因检测多学科护理多系统异常综合体表现

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Visual System

Visual System

Light enters the eye through the cornea, a transparent, dome-shaped surface covering the surface of the eyeball that helps to direct and focus incoming light. This light is then channeled toward the pupil, an adjustable opening whose size is controlled by the iris. The iris, a pigmented muscle, regulates the amount of light entering the eye by contracting or dilating the pupil, thereby ensuring optimal light levels for clear vision.
Once through the pupil, the light passes through the lens, a...