患有马歇尔综合征的成长:从婴儿到12.5岁的病例报告
1Department of Physical Therapy, Faculty of Medicine, University of British Columbia, Vancouver, British Columbia, Canada.
American journal of medical genetics. Part A
|December 8, 2023
概括
马歇尔综合征是一种罕见的遗传性疾病,通过一项独特的纵向病例研究从出生到12.5岁进行了详细说明. 这份报告提供了关于儿童发育和父母在诊断后的经历的见解.
科学领域:
- 遗传学 是一个遗传学.
- 儿科 儿科 儿科
- 罕见疾病 罕见疾病
背景情况:
- 马歇尔综合征是一种极其罕见的遗传性疾病,患病率不到100万分之一.
- 诊断通常发生在婴儿期.
研究的目的:
- 为介绍马歇尔综合征的第一个纵向病例报告.
- 记录一个患有马歇尔综合征的儿童从出生到12.5岁的发育轨迹.
- 在孩子的旅程中分享父母的经验和观点.
主要方法:
- 纵向案例研究方法.
- 详细的临床观察和记录从出生到青春期.
- 对马歇尔综合征现有文献的综述.
主要成果:
- 这份报告提供了一个患有马歇尔综合征的儿童在12.5年的全面发展史.
- 它强调了孩子的进步和结果,将父母早期的恐惧与以后的现实进行对比.
- 该案例说明了这种罕见疾病的长期临床过程和管理.
结论:
- 这份病例报告为马歇尔综合征的长期预后和管理提供了宝贵的见解.
- 它强调了纵向研究对于了解罕见遗传疾病的重要性.
- 这些发现有助于马歇尔综合征的有限文献,有助于未来的研究和临床实践.
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