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Nine new twin pairs with esophageal atresia: A review of the literature and performance of a twin study of the disorder.
MedLine Citation:
PMID:  22287212     Owner:  NLM     Status:  Publisher    
BACKGROUND: Isolated esophageal atresia (EA) is a rare congenital malformation whose etiology remains largely unknown. Nine twin pairs with EA were identified from our clinical service, prompting the performance of a systematic review of the literature and the first reported twin study of isolated EA. METHODS: A total of 330 twin pairs with EA were identified from the literature. The zygosity, concordance, and malformation (isolated vs. nonisolated) status of all 339 twin pairs were evaluated. A total of 72 twin pairs (4 of 9 / 68 of 330) fulfilled the criteria for inclusion in a classic twin study of isolated EA. RESULTS: The pairwise concordance rates were 50% (95% confidence interval [CI], 34-66%) for monozygous (MZ) twin pairs and 26% (95% CI, 15-42%) for dizygous (DZ) twin pairs (p = 0.033). The probandwise concordance rates were 67% (95% CI, 53-78%) for MZ twin pairs and 42% (95% CI, 29-56%) for DZ twin pairs (p = 0.011). The MZ/DZ ratios were 1.9 for pairwise analysis and 1.6 for probandwise analysis. The familial risk ratios for MZ and DZ twin pairs were 1700 and 900, respectively. CONCLUSION: The observation of higher concordance rates for MZ compared to DZ twin pairs indicates that genetic factors contribute to isolated EA. Birth Defects Research (Part A) 2012. © 2012 Wiley Periodicals, Inc.
Anna Carina Schulz; Enrika Bartels; Rüdiger Stressig; Jochen Ritgen; Eberhard Schmiedeke; Manuel Mattheisen; Markus Draaken; Michael Ludwig; Soyhan Bagci; Andreas Müller; Ulrich Gembruch; Annegret Geipel; Christoph Berg; Andreas Heydweiller; Haitham Bachour; Johannes Schumacher; Peter Bartmann; Markus M Nöthen; Heiko Reutter
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-1-30
Journal Detail:
Title:  Birth defects research. Part A, Clinical and molecular teratology     Volume:  -     ISSN:  1542-0760     ISO Abbreviation:  -     Publication Date:  2012 Jan 
Date Detail:
Created Date:  2012-1-30     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101155107     Medline TA:  Birth Defects Res A Clin Mol Teratol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2012 Wiley Periodicals, Inc.
Department of Neonatology, Children's Hospital, University of Bonn, Bonn, Germany.
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