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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.
Birth Defects Res A Clin Mol Teratol. 2012 Mar; 94(3):182-6.BD

Abstract

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.

Authors+Show Affiliations

Department of Neonatology, Children's Hospital, University of Bonn, Bonn, Germany.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Review
Systematic Review
Twin Study

Language

eng

PubMed ID

22287212

Citation

Schulz, Anna Carina, et al. "Nine New Twin Pairs With Esophageal Atresia: a Review of the Literature and Performance of a Twin Study of the Disorder." Birth Defects Research. Part A, Clinical and Molecular Teratology, vol. 94, no. 3, 2012, pp. 182-6.
Schulz AC, Bartels E, Stressig R, et al. Nine new twin pairs with esophageal atresia: a review of the literature and performance of a twin study of the disorder. Birth Defects Res Part A Clin Mol Teratol. 2012;94(3):182-6.
Schulz, A. C., Bartels, E., Stressig, R., Ritgen, J., Schmiedeke, E., Mattheisen, M., Draaken, M., Ludwig, M., Bagci, S., Müller, A., Gembruch, U., Geipel, A., Berg, C., Heydweiller, A., Bachour, H., Schumacher, J., Bartmann, P., Nöthen, M. M., & Reutter, H. (2012). Nine new twin pairs with esophageal atresia: a review of the literature and performance of a twin study of the disorder. Birth Defects Research. Part A, Clinical and Molecular Teratology, 94(3), 182-6. https://doi.org/10.1002/bdra.22879
Schulz AC, et al. Nine New Twin Pairs With Esophageal Atresia: a Review of the Literature and Performance of a Twin Study of the Disorder. Birth Defects Res Part A Clin Mol Teratol. 2012;94(3):182-6. PubMed PMID: 22287212.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Nine new twin pairs with esophageal atresia: a review of the literature and performance of a twin study of the disorder. AU - Schulz,Anna Carina, AU - Bartels,Enrika, AU - Stressig,Rüdiger, AU - Ritgen,Jochen, AU - Schmiedeke,Eberhard, AU - Mattheisen,Manuel, AU - Draaken,Markus, AU - Ludwig,Michael, AU - Bagci,Soyhan, AU - Müller,Andreas, AU - Gembruch,Ulrich, AU - Geipel,Annegret, AU - Berg,Christoph, AU - Heydweiller,Andreas, AU - Bachour,Haitham, AU - Schumacher,Johannes, AU - Bartmann,Peter, AU - Nöthen,Markus M, AU - Reutter,Heiko, Y1 - 2012/01/30/ PY - 2011/09/12/received PY - 2011/10/24/revised PY - 2011/10/24/accepted PY - 2012/1/31/entrez PY - 2012/1/31/pubmed PY - 2012/7/11/medline SP - 182 EP - 6 JF - Birth defects research. Part A, Clinical and molecular teratology JO - Birth Defects Res. Part A Clin. Mol. Teratol. VL - 94 IS - 3 N2 - 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. SN - 1542-0760 UR - https://www.unboundmedicine.com/medline/citation/22287212/Nine_new_twin_pairs_with_esophageal_atresia:_a_review_of_the_literature_and_performance_of_a_twin_study_of_the_disorder_ L2 - https://doi.org/10.1002/bdra.22879 DB - PRIME DP - Unbound Medicine ER -