VATER/VACTERL association
Year: 2012
Type: article
Study design: Observational Study
Abstract: The VATER/VACTERL association is typically defined by the presence of at least three of the following congenital malformations: vertebral anomalies, anal atresia, cardiac malformations, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. The identification of 14 twin pairs with an initial diagnosis of VATER/VACTERL association at our clinical centers led to the performance of a classical twin study. This involved a thorough evaluation of these 14 twin pairs and a further 55 twin pairs identified from a systematic review of the literature. The zygosity, concordance, and malformation status of all 69 twin pairs were evaluated. Twenty-four twin pairs fulfilled the criteria for inclusion in a comparison of the concordance rates between monozygous (MZ) and dizygous (DZ) twin pairs. The pairwise concordance rates were 15% [95% confidence interval (CI) 4-42%] for MZ and 18% (95% CI 5-48%) for DZ twin pairs (P=0.53). The probandwise concordance rates were 27% (95% CI 11-52%) for MZ and 31% (95% CI 13-58%) for DZ twin pairs (P=0.40). Although based on a limited number of twin pairs, the findings of the present study are consistent with the low number of familial cases reported to date, and suggest that the role of inherited genetic factors in the majority of VATER/VACTERL cases is limited.
Source: Clinical Dysmorphology
Authors: Enrika Bartels, Anna C. Schulz, Nicole W. Mora, Daniel E. Pineda-Alvarez, Charlotte H. W. Wijers, Carlo M. Marcelis, Rüdiger Stressig, Jochen Ritgen, Eberhard Schmiedeke, Manuel Mattheisen, Markus Draaken, Per Hoffmann, Alina C. Hilger, Gabriel C. Dworschak, Friederike Baudisch, Michael Ludwig, Soyhan Bagci, Andreas Müller, Ulrich Gembruch, Annegret Geipel, Christoph Berg, Peter Bartmann, Markus M. Nöthen, Iris A.L.M. van Rooij, Benjamin D. Solomon, Heiko M. Reutter
Institutions: Brigham and Women's Hospital, University of Bonn, University Hospital Bonn, National Human Genome Research Institute, Radboud University Nijmegen, Radboud University Medical Center, Klinikum Bremen-Mitte, Harvard University, Institut für Humangenetik, Institute of Human Genetics, Children's Hospital
Language: English
Subfield: Surgery
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W1993276489