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VACTERL Association
Arthur B. Meyers, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Clinical Issues

        • Diagnostic Checklist

          TERMINOLOGY

          • Abbreviations

            • Anorectal malformation (ARM)
            • Tracheoesophageal fistula (TEF)
            • Esophageal atresia (EA)
          • Synonyms

            • VATER, VACTER, VACTEL association, TREACLE, ARTICLE, ARTICLE V, axial mesodermal dysplasia spectrum
          • Definitions

            • Nonrandom association of anomalies involving multiple organ systems (except brain)
              • Vertebral/vascular
              • Anal atresia/auricular
              • Cardiac
              • Tracheoesophageal fistula
              • Esophageal atresia
              • Renal/radial/rib
              • Limb
            • VACTERL association diagnosed when ≥ 3 of above malformations present
              • Clubfoot & hip dysplasia excluded if no other limb anomalies present
            • No clinical or laboratory evidence of alternative diagnosis

          IMAGING

          • General Features

            • Radiographic Findings

              • 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

                                  1. Debost-Legrand A et al: Prenatal diagnosis of the VACTERL association using routine ultrasound examination. Birth Defects Res A Clin Mol Teratol. 103(10):880-6, 2015
                                  2. Solomon BD et al: An approach to the identification of anomalies and etiologies in neonates with identified or suspected VACTERL (vertebral defects, anal atresia, tracheo-esophageal fistula with esophageal atresia, cardiac anomalies, renal anomalies, and limb anomalies) association. J Pediatr. 164(3):451-7.e1, 2014
                                  3. Solomon BD: VACTERL/VATER association. Orphanet J Rare Dis. 6:56, 2011
                                  4. Aguinaga M et al: Sonic hedgehog mutation analysis in patients with VACTERL association. Am J Med Genet A. 152A(3):781-3, 2010
                                  5. O'Neill BR et al: Prevalence of tethered spinal cord in infants with VACTERL. J Neurosurg Pediatr. 6(2):177-82, 2010
                                  6. 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
                                  7. Castori M et al: Tibial developmental field defect is the most common lower limb malformation pattern in VACTERL association. Am J Med Genet A. 146A(10):1259-66, 2008
                                  8. Lachman RS: Taybi and Lachman's radiology of syndromes, metabolic disorders, and skeletal dysplasias. 5th ed. Philadelphia: Mosby, 2007
                                  9. Komura M et al: A female infant who had both complete VACTERL association and MURCS association: report of a case. Surg Today. 37(10):878-80, 2007
                                  10. Maschke SD et al: Radial longitudinal deficiency. J Am Acad Orthop Surg. 15(1):41-52, 2007
                                  11. Ratan SK et al: A neonate with anorectal malformation with rare limb defects report of a case. Pediatr Surg Int. 21(10):825-8, 2005
                                  12. Haller JO et al: Tracheoesophageal fistula (H-type) in neonates with imperforate anus and the VATER association. Pediatr Radiol. 34(1):83-5, 2004
                                  13. Wattanasirichaigoon D et al: Rib defects in patterns of multiple malformations: a retrospective review and phenotypic analysis of 47 cases. Am J Med Genet. 122A(1):63-9, 2003
                                  14. Evans JA et al: Tibial agenesis with radial ray and cardiovascular defects. Clin Dysmorphol. 11(3):163-9, 2002
                                  15. Spruijt L et al: VATER--tibia aplasia association: report on two patients. Clin Dysmorphol. 11(4):283-7, 2002
                                  16. Wales PW et al: Horseshoe lung in association with other foregut anomalies: what is the significance? J Pediatr Surg. 37(8):1205-7, 2002
                                  17. Kallen K et al: VATER non-random association of congenital malformations: study based on data from four malformation registers. Am J Med Genet. 101(1):26-32, 2001
                                  18. Rittler M et al: VACTERL association, epidemiologic definition and delineation. Am J Med Genet. 63(4):529-36, 1996
                                  19. Torfs CP et al: Population-based study of tracheoesophageal fistula and esophageal atresia. Teratology. 52(4):220-32, 1995
                                  20. James HE et al: Distal spinal cord pathology in the VATER association. J Pediatr Surg. 29(11):1501-3, 1994
                                  21. Corsello G et al: VATER/VACTERL association: clinical variability and expanding phenotype including laryngeal stenosis. Am J Med Genet. 44(6):813-5, 1992
                                  22. Levine F et al: VACTERL association with high prenatal lead exposure: similarities to animal models of lead teratogenicity. Pediatrics. 87(3):390-2, 1991
                                  23. Fernbach SK et al: The expanded spectrum of limb anomalies in the VATER association. Pediatr Radiol. 18(3):215-20, 1988
                                  Related Anatomy
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                                  Related Differential Diagnoses
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                                  References
                                  Tables

                                  Tables

                                  KEY FACTS

                                  • Terminology

                                    • Imaging

                                      • Clinical Issues

                                        • Diagnostic Checklist

                                          TERMINOLOGY

                                          • Abbreviations

                                            • Anorectal malformation (ARM)
                                            • Tracheoesophageal fistula (TEF)
                                            • Esophageal atresia (EA)
                                          • Synonyms

                                            • VATER, VACTER, VACTEL association, TREACLE, ARTICLE, ARTICLE V, axial mesodermal dysplasia spectrum
                                          • Definitions

                                            • Nonrandom association of anomalies involving multiple organ systems (except brain)
                                              • Vertebral/vascular
                                              • Anal atresia/auricular
                                              • Cardiac
                                              • Tracheoesophageal fistula
                                              • Esophageal atresia
                                              • Renal/radial/rib
                                              • Limb
                                            • VACTERL association diagnosed when ≥ 3 of above malformations present
                                              • Clubfoot & hip dysplasia excluded if no other limb anomalies present
                                            • No clinical or laboratory evidence of alternative diagnosis

                                          IMAGING

                                          • General Features

                                            • Radiographic Findings

                                              • 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

                                                                  1. Debost-Legrand A et al: Prenatal diagnosis of the VACTERL association using routine ultrasound examination. Birth Defects Res A Clin Mol Teratol. 103(10):880-6, 2015
                                                                  2. Solomon BD et al: An approach to the identification of anomalies and etiologies in neonates with identified or suspected VACTERL (vertebral defects, anal atresia, tracheo-esophageal fistula with esophageal atresia, cardiac anomalies, renal anomalies, and limb anomalies) association. J Pediatr. 164(3):451-7.e1, 2014
                                                                  3. Solomon BD: VACTERL/VATER association. Orphanet J Rare Dis. 6:56, 2011
                                                                  4. Aguinaga M et al: Sonic hedgehog mutation analysis in patients with VACTERL association. Am J Med Genet A. 152A(3):781-3, 2010
                                                                  5. O'Neill BR et al: Prevalence of tethered spinal cord in infants with VACTERL. J Neurosurg Pediatr. 6(2):177-82, 2010
                                                                  6. 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
                                                                  7. Castori M et al: Tibial developmental field defect is the most common lower limb malformation pattern in VACTERL association. Am J Med Genet A. 146A(10):1259-66, 2008
                                                                  8. Lachman RS: Taybi and Lachman's radiology of syndromes, metabolic disorders, and skeletal dysplasias. 5th ed. Philadelphia: Mosby, 2007
                                                                  9. Komura M et al: A female infant who had both complete VACTERL association and MURCS association: report of a case. Surg Today. 37(10):878-80, 2007
                                                                  10. Maschke SD et al: Radial longitudinal deficiency. J Am Acad Orthop Surg. 15(1):41-52, 2007
                                                                  11. Ratan SK et al: A neonate with anorectal malformation with rare limb defects report of a case. Pediatr Surg Int. 21(10):825-8, 2005
                                                                  12. Haller JO et al: Tracheoesophageal fistula (H-type) in neonates with imperforate anus and the VATER association. Pediatr Radiol. 34(1):83-5, 2004
                                                                  13. Wattanasirichaigoon D et al: Rib defects in patterns of multiple malformations: a retrospective review and phenotypic analysis of 47 cases. Am J Med Genet. 122A(1):63-9, 2003
                                                                  14. Evans JA et al: Tibial agenesis with radial ray and cardiovascular defects. Clin Dysmorphol. 11(3):163-9, 2002
                                                                  15. Spruijt L et al: VATER--tibia aplasia association: report on two patients. Clin Dysmorphol. 11(4):283-7, 2002
                                                                  16. Wales PW et al: Horseshoe lung in association with other foregut anomalies: what is the significance? J Pediatr Surg. 37(8):1205-7, 2002
                                                                  17. Kallen K et al: VATER non-random association of congenital malformations: study based on data from four malformation registers. Am J Med Genet. 101(1):26-32, 2001
                                                                  18. Rittler M et al: VACTERL association, epidemiologic definition and delineation. Am J Med Genet. 63(4):529-36, 1996
                                                                  19. Torfs CP et al: Population-based study of tracheoesophageal fistula and esophageal atresia. Teratology. 52(4):220-32, 1995
                                                                  20. James HE et al: Distal spinal cord pathology in the VATER association. J Pediatr Surg. 29(11):1501-3, 1994
                                                                  21. Corsello G et al: VATER/VACTERL association: clinical variability and expanding phenotype including laryngeal stenosis. Am J Med Genet. 44(6):813-5, 1992
                                                                  22. Levine F et al: VACTERL association with high prenatal lead exposure: similarities to animal models of lead teratogenicity. Pediatrics. 87(3):390-2, 1991
                                                                  23. Fernbach SK et al: The expanded spectrum of limb anomalies in the VATER association. Pediatr Radiol. 18(3):215-20, 1988