| Nine new twin pairs with esophageal atresia: A review of the literature and performance of a twin study of the disorder. | |
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MedLine Citation:
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PMID: 22287212 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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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. |
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Authors:
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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:
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Type: JOURNAL ARTICLE Date: 2012-1-30 |
Journal Detail:
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Title: Birth defects research. Part A, Clinical and molecular teratology Volume: - ISSN: 1542-0760 ISO Abbreviation: - Publication Date: 2012 Jan |
Date Detail:
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Created Date: 2012-1-30 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101155107 Medline TA: Birth Defects Res A Clin Mol Teratol Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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Copyright © 2012 Wiley Periodicals, Inc. |
Affiliation:
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Department of Neonatology, Children's Hospital, University of Bonn, Bonn, Germany. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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