它只是不是矮身高的身材
Hassan Sreenivasamurthy Rajani1, Doddaiah Narayanappa1, Deepa Bhat1
1Associate Professor, Department of Pediatrics, JSS Medical College, JSS Academy of Higher Education and Research, Mysore, India.
Sudanese journal of paediatrics
|February 21, 2024
概括
拉塞尔-银综合征是一种罕见的遗传疾病,导致生长问题和明显的面部特征. 本报告详细介绍了一例确诊病例,强调了关键诊断指标.
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:
- 拉塞尔-银综合征 (RSS) 是一种罕见的遗传疾病,其特征是子宫内和产后生长迟缓,半高缩和特定的面部异形.
- 估计的RSS发病率差异很大,从3000例中的1例到10万例中的1例.
- 诊断通常依赖于临床特征,但基因分析对于确认至关重要.
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