索托斯综合征的儿科患者的行为变化:一个案例强调了协调护理的重要性
Tristan Hichkad1, Emma E Guld2, Gabriella Assi3
1Research, Lake Erie College of Osteopathic Medicine, Bradenton, USA.
Cureus
|September 3, 2024
概括
索托斯综合征是一种由NSD1基因突变引起的遗传过度生长障碍,表现为高个体和发育迟缓. 综合护理对于管理其复杂的症状和并发症至关重要.
科学领域:
- 遗传学 是一个遗传学.
- 儿科 儿科 儿科
- 内分泌学 在内分泌学.
背景情况:
- 索托斯综合征是一种罕见的遗传过度生长障碍.
- 它主要是由核受体结合组域蛋白1 (NSD1) 基因的突变引起的.
- 关键特征包括身高高大,独特的面部特征和学习障碍.
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