title: Analysis of component findings in 79 patients diagnosed with VACTERL association.
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.
authors.affiliation: Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD 20892, USA. solomonb@mail.nih.gov
authors.forename: Benjamin D
authors.initials: BD
authors.lastname: Solomon
authors.forename: Daniel E
authors.initials: DE
authors.lastname: Pineda-Alvarez
authors.forename: Manu S
authors.initials: MS
authors.lastname: Raam
authors.forename: Sophia M
authors.initials: SM
authors.lastname: Bous
authors.forename: Amelia A
authors.initials: AA
authors.lastname: Keaton
authors.forename: Jorge I
authors.initials: JI
authors.lastname: Vélez
authors.forename: Derek A T
authors.initials: DA
authors.lastname: Cummings
mesh_terms: D000293:Adolescent; D000328:Adult; D001003:Anal Canal / Q000002:abnormalities; D002648:Child; D002675:Child, Preschool; D016000:Cluster Analysis; D003937:Diagnosis, Differential; D004947:Esophagus / Q000002:abnormalities; D005260:Female; D006330:Heart Defects, Congenital / Q000175:diagnosis; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities; D017880:Limb Deformities, Congenital / Q000175:diagnosis; D008297:Male; D015999:Multivariate Analysis; D011247:Pregnancy; D013131:Spine / Q000002:abnormalities; D014132:Trachea / Q000002:abnormalities; D055815:Young Adult