ArticlePediatric research2020
Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study.
Article in Pediatric research, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
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Who cites it
36 citing papers in PubMed, 52 citations in OpenAlex.
- Risk factors for chronic kidney disease progression in VACTERL-association Korean patients: a retrospective study.Childhood kidney diseases · 2026Article
- Tc-99m Renal Scintigraphy in Complex Congenital Systemic Syndromes Associated with Congenital Anomalies of the Kidney and Urinary Tract: A Retrospective Single-Center Study.World journal of nuclear medicine · 2026Article
- Kidney health in VACTERL association: structural vulnerability and surveillance.Childhood kidney diseases · 2026Article
- Bowel and bladder outcomes in patients with anorectal malformations and sacral agenesis: a retrospective cohort study.Pediatric surgery international · 2026Article
- Congenital H-type tracheoesophageal fistula: Experience from a large Chinese center.Pediatric research · 2026Article
- Genital and urinary tract malformations, associated morbidity, and need for urogenital surgery among children with esophageal atresia: a retrospective cohort study.Pediatric surgery international · 2026Article
- Recurrent Constellations of Embryonic Malformations (RCEM): Teratogenicity Linked to Transient Hypoxia and Hormone Pregnancy Tests Agrees With RCEM and Suggest a Reactive Oxygen Species Pathogenesis.Birth defects research · 2026Review
- Congenital Heart Defects in Patients with Anorectal Malformations: A Retrospective Cohort Study of 281 Patients.Pediatric cardiology · 2025Article
- Surgical outcomes for necrotizing enterocolitis in Dutch infants born before 26 weeks' gestation.BJS open · 2025Article
- Prenatal Ultrasound in the Diagnosis of Anorectal Malformations: Correlating Prenatal Signs With Postnatal Outcomes.Prenatal diagnosis · 2025Article
- Outcomes and challenges in the management of esophageal atresia and/or tracheoesophageal fistula: insights from Turkish Esophageal Atresia Registry.World journal of pediatric surgery · 2025Review
- Article
- Anorectal malformations.Nature reviews. Disease primers · 2024Review
- Ectopic Kidney, a Challenging First Trimester Diagnosis-Case Report and Literature Review.Life (Basel, Switzerland) · 2024Article
- Identification of a DNA methylation episignature for recurrent constellations of embryonic malformations.American journal of human genetics · 2024Article
- Article
- Surveillance of multiple congenital anomalies; searching for new associations.European journal of human genetics : EJHG · 2024Review
- The European Anorectal Malformation Network (ARM-Net) patient registry: 10-year review of clinical and surgical characteristics.The British journal of surgery · 2024Review
- A Cohort of 469 Mayer-Rokitansky-Küster-Hauser Syndrome Patients-Associated Malformations, Syndromes, and Heterogeneity of the Phenotype.Journal of clinical medicine · 2024Article
- Article
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Authors and funding
39 authors at 20 institutions in 16 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe 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.
methodsA 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.
resultsIn 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.
conclusionThe clearly defined VACTERL component features and the VACTERL subtypes introduced will improve both clinical practice and etiologic research.
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