Document Detail

VATER/VACTERL association: identification of seven new twin pairs, a systematic review of the literature, and a classical twin analysis.
MedLine Citation:
PMID:  22895008     Owner:  NLM     Status:  MEDLINE    
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.
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
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't; Review; Twin Study    
Journal Detail:
Title:  Clinical dysmorphology     Volume:  21     ISSN:  1473-5717     ISO Abbreviation:  Clin. Dysmorphol.     Publication Date:  2012 Oct 
Date Detail:
Created Date:  2012-08-30     Completed Date:  2013-01-16     Revised Date:  2014-08-12    
Medline Journal Info:
Nlm Unique ID:  9207893     Medline TA:  Clin Dysmorphol     Country:  England    
Other Details:
Languages:  eng     Pagination:  191-5     Citation Subset:  IM    
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MeSH Terms
Anus, Imperforate / pathology*
Diseases in Twins / pathology*
Esophagus / abnormalities,  pathology
Heart Defects, Congenital / pathology*
Radius / abnormalities,  pathology
Spine / abnormalities,  pathology
Trachea / abnormalities,  pathology
Twins, Dizygotic
Twins, Monozygotic
Grant Support

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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