分析 79 例 VACTERL 综合征患者的成分发现。
Analysis of component findings in 79 patients diagnosed with VACTERL association.
机构信息
Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD 20892, USA.
出版信息
Am J Med Genet A. 2010 Sep;152A(9):2236-44. doi: 10.1002/ajmg.a.33572.
Abstract
VACTERL association is a relatively common condition, though the causes remain poorly understood. We present data on 79 patients diagnosed with VACTERL association and perform statistical analysis on a selected subset of 60 patients with at least three component features, and who, after review, did not meet criteria for a likely alternate diagnosis. Considered individually, no two component features are significantly associated, but several multivariate statistical techniques suggest novel patterns of the co-occurrence of component features, and latent class cluster analysis demonstrates the presence of five major subgroups of patients. These findings have implications for both our understanding of VACTERL association and for the approach to research involving this condition.
摘要
VACTERL 协会是一种相对常见的情况，尽管其原因仍不清楚。我们提供了 79 例诊断为 VACTERL 协会的患者的数据，并对至少有三个组成特征的 60 例患者的选定子集进行了统计分析，这些患者在回顾后不符合可能的其他诊断标准。单独考虑，没有两个组成特征有显著关联，但几种多变量统计技术提示组成特征的共同发生存在新的模式，潜在类别聚类分析表明存在五个主要的患者亚组。这些发现对我们对 VACTERL 协会的理解以及对涉及这种情况的研究方法都有影响。
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