Analysis of Component Findings in 79 Patients Diagnosed With VACTERL Association

被引:65
作者
Solomon, Benjamin D. [1 ]
Pineda-Alvarez, Daniel E.
Raam, Manu S. [2 ]
Bous, Sophia M.
Keaton, Amelia A.
Velez, Jorge I.
Cummings, Derek A. T. [3 ]
机构
[1] NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USA
[2] NIH, Res Scholars Program, Howard Hughes Med Inst, Chevy Chase, MD USA
[3] Johns Hopkins Univ, Dept Epidemiol, Bloomberg Sch Publ Hlth, Baltimore, MD USA
关键词
VACTERL; VACTERL association; VATER; VATER association; VATER-ASSOCIATION; ESOPHAGEAL ATRESIA; CONGENITAL-ANOMALIES; SONIC HEDGEHOG; SPECTRUM; FISTULA; GENE; DEFINITION; MUTATION;
D O I
10.1002/ajmg.a.33572
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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. Published 2010 (C) Wiley-Liss, Inc.
引用
收藏
页码:2236 / 2244
页数:9
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