早期诊断的安吉尔曼综合征的案例研究:识别非典型的临床表现
Han Dang1, Sandhya Srinivasa1, Sun Young Lee1
1Pediatrics, University of the Incarnate Word School of Osteopathic Medicine, San Antonio, USA.
Cureus
|June 21, 2023
概括
对安吉尔曼综合征 (AS) 的早期诊断至关重要. 识别非特异性症状,如婴儿发育不良,可以导致及时干预,并改善患有这种罕见神经疾病的儿童的结果.
科学领域:
- 儿科神经学 儿科神经学
- 临床遗传学 临床遗传学
背景情况:
- 安吉尔曼综合征 (AS) 是一种罕见的遗传性疾病,影响神经系统,在婴儿期经常出现发育迟缓,和特征性行为特征.
- 诊断通常包括临床评估和遗传检测,以确认潜在的遗传原因,最常见的是染色体15q11.2-q13.1.1上的删除.
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