Clinical Presentations and Diagnostic Imaging of VACTERL Association

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dc.authoridRizzo, Giuseppe/0000-0002-5525-4353en_US
dc.authoridBonasoni, Maria Paola/0000-0002-4889-1944en_US
dc.authoridTonni, Gabriele/0000-0002-2620-7486en_US
dc.authoridLituania, Mario/0009-0006-5436-0185en_US
dc.authoridGrisolia, Gianpaolo/0000-0001-5314-7231en_US
dc.authoridRuano, Rodrigo/0000-0002-3642-5858en_US
dc.authoridKocak, Cagla/0009-0009-7557-3157en_US
dc.authorwosidRizzo, Giuseppe/G-8234-2018en_US
dc.authorwosidBonasoni, Maria Paola/AAA-7499-2021en_US
dc.authorwosidTonni, Gabriele/AAM-9842-2020en_US
dc.authorwosidBonasoni, Maria Paola/JUU-5477-2023en_US
dc.contributor.authorTonni, Gabriele
dc.contributor.authorKocak, Cagla
dc.contributor.authorGrisolia, Gianpaolo
dc.contributor.authorRizzo, Giuseppe
dc.contributor.authorAraujo Junior, Edward
dc.contributor.authorWerner, Heron
dc.contributor.authorRuano, Rodrigo
dc.date.accessioned2024-08-23T16:04:23Z
dc.date.available2024-08-23T16:04:23Z
dc.date.issued2023en_US
dc.departmentDüzce Üniversitesien_US
dc.description.abstractBackground: VACTERL association consists of Vertebral, Anorectal, Cardiac, Tracheo-Esophageal, Renal, and Limb defects. The diagnosis depends on the presence of at least three of these structural abnormalities. Methods: The clinical presentation and diagnostic prenatal imaging of VACTERL association are comprehensively reviewed. Results: The most common feature is a vertebral anomaly, found in 60-80% of cases. Tracheo-esophageal fistula is seen in 50-80% of cases and renal malformations in 30% of patients. Limb defects including thumb aplasia/hypoplasia, polydactyly, and radial agenesis/hypoplasia are present in 40-50% of cases. Anorectal defects, like imperforate anus/anal atresia, are challenging to detect prenatally. Conclusion: The diagnosis of VACTERL association mostly relies on imaging techniques such as ultrasound, computed tomography, and magnetic resonance. Differential diagnosis should exclude similar diseases such as CHARGE and Townes-Brocks syndromes and Fanconi anemia. New insights into genetic etiology have led to recommendations of chromosomal breakage investigation for optimal diagnosis and counseling.en_US
dc.identifier.doi10.1080/15513815.2023.2206905
dc.identifier.endpage674en_US
dc.identifier.issn1551-3815
dc.identifier.issn1551-3823
dc.identifier.issue4en_US
dc.identifier.pmid37195727en_US
dc.identifier.startpage651en_US
dc.identifier.urihttps://doi.org/10.1080/15513815.2023.2206905
dc.identifier.urihttps://hdl.handle.net/20.500.12684/14193
dc.identifier.volume42en_US
dc.identifier.wosWOS:000989128700001en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherTaylor & Francis Incen_US
dc.relation.ispartofFetal And Pediatric Pathologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectVACTERL associationen_US
dc.subjectprenatal diagnosisen_US
dc.subjectultrasounden_US
dc.subjectfetal pathologyen_US
dc.subjectPrenatal-Diagnosisen_US
dc.subjectEsophageal Atresiaen_US
dc.subjectVater Associationen_US
dc.subjectTracheoesophageal Fistulaen_US
dc.subjectRenal Anomaliesen_US
dc.subjectCongenital-Anomaliesen_US
dc.subjectCardiac Anomaliesen_US
dc.subjectVertebral Defectsen_US
dc.subjectFanconi-Anemiaen_US
dc.subjectSonic Hedgehogen_US
dc.titleClinical Presentations and Diagnostic Imaging of VACTERL Associationen_US
dc.typeArticleen_US

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