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韦弗综合征的新病例:描绘自然过程和生长模式,进一步澄清临床表型

Yağmur Ünsal¹, Nalan Yıldırım¹, Ayşe Derya Buluş¹

¹Department of Pediatric Endocrinology, Ankara Atatürk Sanatoryum Training and Research Hospital, Ankara, Turkey.

Molecular syndromology

|April 3, 2025

概括

韦弗综合征是高个体的罕见原因,诊断可能具有挑战性. 基因检测在患者身上发现了EZH2基因变异,证实了诊断并帮助预后.

科学领域:

遗传学遗传学是一个
儿科儿科儿科
内分泌学在内分泌学.

背景情况:

韦弗综合征是一种罕见的遗传性疾病,其特点是过度生长,骨老化以及独特的面部特征.
诊断高身高综合征可能很复杂,即使使用先进的遗传检测.

研究的目的:

描述患有EZH2基因变异的患者韦弗综合征的临床表现和自然过程.
突出基因分析在诊断罕见过度生长综合征方面的重要性.

主要方法:

一个20个月大的女孩的临床病例介绍,身材高大.
综合基因分析,包括整个外体序列和副本数量变异分析.
对患者的生长参数,异形特征和发育里程碑的审查.

主要成果:

患者的身材高大,骨成熟加速,轻度智力障碍,以及包括坎普多达克提利在内的异形特征.
整体外基因组测序揭示了EZH2基因中的异合体变异.
根据临床和遗传发现,韦弗综合征的诊断得到了确认.

结论:

身高高大,有异形特征和智力障碍,需要对综合征的原因进行调查.
基因检测,特别是整个外基因组测序,对于诊断像韦弗综合征这样的罕见疾病至关重要.
准确的诊断对于预测预后和管理器官参与至关重要.

关键词:

坎普托达克提利 (Camptodactyly) 是一种指甲状腺的疾病.子中的穴.智力障碍智力障碍是一种智力障碍.高大的身材高大的身材.韦弗综合征是什么意思韦弗综合征

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