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Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study

2019-09-09Journal article Restricted access
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dc.contributor.authorvan de Putte, Romy
dc.contributor.authorvan Rooij, Iris A.L.M.
dc.contributor.authorMarcelis, Carlo L.M.
dc.contributor.authorGuo, Michel
dc.contributor.authorBrunner, Han G.
dc.contributor.authorAddor, Marie-Claude
dc.contributor.authorCavero-Carbonell, Clara
dc.contributor.authorDias, Carlos M.
dc.contributor.authorDraper, Elizabeth S.
dc.contributor.authorEtxebarriarteun, Larraitz
dc.contributor.authorGatt, Miriam
dc.contributor.authorHaeusler, Martin
dc.contributor.authorKhoshnood, Babak
dc.contributor.authorKlungsoyr, Kari
dc.contributor.authorKurinczuk, Jenny J.
dc.contributor.authorLanzoni, Monica
dc.contributor.authorLatos-Bielenska, Anna
dc.contributor.authorLuyt, Karen
dc.contributor.authorO’Mahony, Mary T.
dc.contributor.authorMiller, Nicola
dc.contributor.authorMullaney, Carmel
dc.contributor.authorNelen, Vera
dc.contributor.authorNeville, Amanda J.
dc.contributor.authorPerthus, Isabelle
dc.contributor.authorPierini, Anna
dc.contributor.authorRandrianaivo, Hanitra
dc.contributor.authorRankin, Judith
dc.contributor.authorRissmann, Anke
dc.contributor.authorRouget, Florence
dc.contributor.authorSchaub, Bruno
dc.contributor.authorTucker, David
dc.contributor.authorWellesley, Diana
dc.contributor.authorWiesel, Awi
dc.contributor.authorZymak-Zakutnia, Natalya
dc.contributor.authorLoane, Maria
dc.contributor.authorBarisic, Ingeborg
dc.contributor.authorde Walle, Hermien E.K.
dc.contributor.authorRoeleveld, Nel
dc.contributor.authorBergman, Jorieke E.H.
dc.date.accessioned2020-04-29T06:39:15Z
dc.date.available2020-04-29T06:39:15Z
dc.date.issued2019-09-09
dc.description.abstractBackground: The VACTERL (Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, Limb abnormalities) association is the non-random occurrence of at least three of these congenital anomalies: vertebral, anal, cardiac, tracheo-esophageal, renal, and limb anomalies. Diagnosing VACTERL patients is difficult, as many disorders have multiple features in common with VACTERL. The aims of this study were to clearly outline component features, describe the phenotypic spectrum among the largest group of VACTERL patients thus far reported, and to identify phenotypically similar subtypes. Methods: A case-only study was performed assessing data on 501 cases recorded with VACTERL in the JRC-EUROCAT (Joint Research Centre-European Surveillance of Congenital Anomalies) central database (birth years: 1980-2015). We differentiated between major and minor VACTERL features and anomalies outside the VACTERL spectrum to create a clear definition of VACTERL. Results: In total, 397 cases (79%) fulfilled our VACTERL diagnostic criteria. The most commonly observed major VACTERL features were anorectal malformations and esophageal atresia/tracheo-esophageal fistula (both occurring in 62% of VACTERL cases), followed by cardiac (57%), renal (51%), vertebral (33%), and limb anomalies (25%), in every possible combination. Three VACTERL subtypes were defined: STRICT-VACTERL, VACTERL-LIKE, and VACTERL-PLUS, based on severity and presence of additional congenital anomalies. Conclusion: The clearly defined VACTERL component features and the VACTERL subtypes introduced will improve both clinical practice and etiologic research.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationPediatr Res . 2020 Feb;87(3):541-549. doi: 10.1038/s41390-019-0561-y. Epub 2019 Sep 9pt_PT
dc.identifier.doi10.1038/s41390-019-0561-ypt_PT
dc.identifier.issn0031-3998
dc.identifier.urihttp://hdl.handle.net/10400.18/6558
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherSpringer Nature/ International Pediatric Research Foundationpt_PT
dc.relation.publisherversionhttps://www.nature.com/articles/s41390-019-0561-ypt_PT
dc.subjectVACTERLpt_PT
dc.subjectCongenital Anomaliespt_PT
dc.subjectEUROCATpt_PT
dc.subjectAnomalias Congénitaspt_PT
dc.subjectRENACpt_PT
dc.subjectObservação em Saúde e Vigilânciapt_PT
dc.subjectEstados de Saúde e de Doençapt_PT
dc.titleSpectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based studypt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage549pt_PT
oaire.citation.issue3pt_PT
oaire.citation.startPage541pt_PT
oaire.citation.titlePediatric Researchpt_PT
oaire.citation.volume87pt_PT
rcaap.embargofctDe acordo com política editorial da revista.pt_PT
rcaap.rightsembargoedAccesspt_PT
rcaap.typearticlept_PT

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