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KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
TERMINOLOGY
Synonyms
- VATER/VACTERL association
Definitions
- Nonrandom association of 6 core abnormalities
- Vertebral defects
- Anal atresia
- Cardiac anomalies
- Tracheoesophageal (TE) fistula, esophageal atresia
- Renal anomalies
- Limb defects (primarily radial ray)
- VATER is subset, including vertebral defects, anal atresia, TE fistula/esophageal atresia, renal/radial defects
- Diagnosis of exclusion: At least 3 features should be present to consider diagnosis
- Nonrandom association of 6 core abnormalities
IMAGING
General Features
Ultrasonographic Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Staging, Grading, & Classification
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Image Interpretation Pearls
Selected References
- van de Putte R et al: Maternal risk factors for the VACTERL association: a EUROCAT case-control study. Birth Defects Res. 112(9):688-98, 2020
- van de Putte R et al: Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study. Pediatr Res. 87(3):541-9, 2020
- Guptha S et al: Likelihood of meeting defined VATER/VACTERL phenotype in infants with esophageal atresia with or without tracheoesophageal fistula. Am J Med Genet A. 179(11):2202-6, 2019
- Holmquist A et al: Closer location of the tracheoesophageal fistula to the carina in newborns with esophageal atresia and VACTERL association. J Pediatr Surg. 54(7):1312-5, 2019
- Husain M et al: Phenotypic diversity of patients diagnosed with VACTERL association. Am J Med Genet A. 176(9):1830-7, 2018
- Solomon BD: The etiology of VACTERL association: current knowledge and hypotheses. Am J Med Genet C Semin Med Genet. 178(4):440-6, 2018
- Reutter H et al: Underlying genetic factors of the VATER/VACTERL association with special emphasis on the "renal" phenotype. Pediatr Nephrol. 31(11):2025-33, 2016
- Basude S et al: Fetal hemivertebra: associations and perinatal outcome. Ultrasound Obstet Gynecol. 45(4):434-8, 2015
- Brosens E et al: VACTERL association etiology: the impact of de novo and rare copy number variations. Mol Syndromol. 4(1-2):20-6, 2013
- Cunningham BK et al: Analysis of cardiac anomalies in VACTERL association. Birth Defects Res A Clin Mol Teratol. 97(12):792-7, 2013
- Solomon BD et al: Clinical geneticists' views of VACTERL/VATER association. Am J Med Genet A. 158A(12):3087-100, 2012
- Raam MS et al: Long-term outcomes of adults with features of VACTERL association. Eur J Med Genet. 54(1):34-41, 2011
- Solomon BD et al: Analysis of component findings in 79 patients diagnosed with VACTERL association. Am J Med Genet A. 152A(9):2236-44, 2010
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Related Differential Diagnoses
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References
Tables
Tables
KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
TERMINOLOGY
Synonyms
- VATER/VACTERL association
Definitions
- Nonrandom association of 6 core abnormalities
- Vertebral defects
- Anal atresia
- Cardiac anomalies
- Tracheoesophageal (TE) fistula, esophageal atresia
- Renal anomalies
- Limb defects (primarily radial ray)
- VATER is subset, including vertebral defects, anal atresia, TE fistula/esophageal atresia, renal/radial defects
- Diagnosis of exclusion: At least 3 features should be present to consider diagnosis
- Nonrandom association of 6 core abnormalities
IMAGING
General Features
Ultrasonographic Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Staging, Grading, & Classification
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Image Interpretation Pearls
Selected References
- van de Putte R et al: Maternal risk factors for the VACTERL association: a EUROCAT case-control study. Birth Defects Res. 112(9):688-98, 2020
- van de Putte R et al: Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study. Pediatr Res. 87(3):541-9, 2020
- Guptha S et al: Likelihood of meeting defined VATER/VACTERL phenotype in infants with esophageal atresia with or without tracheoesophageal fistula. Am J Med Genet A. 179(11):2202-6, 2019
- Holmquist A et al: Closer location of the tracheoesophageal fistula to the carina in newborns with esophageal atresia and VACTERL association. J Pediatr Surg. 54(7):1312-5, 2019
- Husain M et al: Phenotypic diversity of patients diagnosed with VACTERL association. Am J Med Genet A. 176(9):1830-7, 2018
- Solomon BD: The etiology of VACTERL association: current knowledge and hypotheses. Am J Med Genet C Semin Med Genet. 178(4):440-6, 2018
- Reutter H et al: Underlying genetic factors of the VATER/VACTERL association with special emphasis on the "renal" phenotype. Pediatr Nephrol. 31(11):2025-33, 2016
- Basude S et al: Fetal hemivertebra: associations and perinatal outcome. Ultrasound Obstet Gynecol. 45(4):434-8, 2015
- Brosens E et al: VACTERL association etiology: the impact of de novo and rare copy number variations. Mol Syndromol. 4(1-2):20-6, 2013
- Cunningham BK et al: Analysis of cardiac anomalies in VACTERL association. Birth Defects Res A Clin Mol Teratol. 97(12):792-7, 2013
- Solomon BD et al: Clinical geneticists' views of VACTERL/VATER association. Am J Med Genet A. 158A(12):3087-100, 2012
- Raam MS et al: Long-term outcomes of adults with features of VACTERL association. Eur J Med Genet. 54(1):34-41, 2011
- Solomon BD et al: Analysis of component findings in 79 patients diagnosed with VACTERL association. Am J Med Genet A. 152A(9):2236-44, 2010
