儿童生长参考图表 儿童生长参考图表 儿童生长参考图表
Moira S Cheung1, Tim J Cole2, Paul Arundel3
1Great Ormond Street Hospital for Children, London, UK.
American journal of medical genetics. Part A
|October 10, 2023
概括
为了解决缺少特定参考的情况,为患有下极性质形成症 (HCH) 的儿童开发了生长图表. 这些HCH增长图为监测发展和识别并发症提供了关键的基准.
科学领域:
- 儿科 儿科 儿科
- 遗传学 是一个遗传学.
- 内分泌学 在内分泌学.
背景情况:
- 缺血症 (HCH) 是一种罕见的骨发育不良症,其特征是轻微的矮身.
- 现有的生长参考图表对于被诊断为HCH的儿童来说是不够的.
- 精确的生长监测对于管理HCH和识别潜在的并发症至关重要.
研究的目的:
- 在患有HCH的儿童中生成高度,体重和头周长 (HC) 的特定生长参考图表.
- 建立基准来评估这一群体的增长和发展.
- 为未来的研究和临床试验提供基础.
主要方法:
- 来自14个欧洲中心的混合纵向人类学数据和遗传分析的收集.
- 使用位置,规模和形状的通用增量模型生成增长图表.
- 包括188名患有HCH的儿童 (0-18岁) 的数据,在92%的基因确认中确定了FGFR3变异.
主要成果:
- 开发了高度,体重和HC的特定HCH生长图表.
- 图表包括0-4岁和0-16岁的7个百分点 (第2-98位).
- 数据包括983个高度,896个重量和389个HC测量.
结论:
- 特定于HCH的生长图表对于临床管理至关重要.
- 这些图表有助于识别影响生长的并发症.
- 它们作为HCH干预研究的基本基准.
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