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VACTERL Association
Janice L. B. Byrne, MD
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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 fistula with Esophageal atresia
              • Renal anomalies
              • Limb defects (primarily radial ray)
            • VATER includes vertebral, anal atresia, TE fistula with esophageal atresia, renal/radial defects
            • At least 3 features should be present to consider diagnosis

          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

                                1. Reutter H et al: Underlying genetic factors of the VATER/VACTERL association with special emphasis on the "Renal" phenotype. Pediatr Nephrol. ePub, 2016
                                2. Basude S et al: Fetal hemivertebra: associations and perinatal outcome. Ultrasound Obstet Gynecol. 45(4):434-8, 2015
                                3. Cunningham BK et al: Analysis of renal anomalies in VACTERL association. Birth Defects Res A Clin Mol Teratol. 100(10):801-5, 2014
                                4. 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
                                5. Cunningham BK et al: Analysis of cardiac anomalies in VACTERL association. Birth Defects Res A Clin Mol Teratol. 97(12):792-7, 2013
                                6. Bartels E et al: VATER/VACTERL association: identification of seven new twin pairs, a systematic review of the literature, and a classical twin analysis. Clin Dysmorphol. 21(4):191-5, 2012
                                7. Solomon BD et al: Clinical geneticists' views of VACTERL/VATER association. Am J Med Genet A. 158A(12):3087-100, 2012
                                8. Raam MS et al: Long-term outcomes of adults with features of VACTERL association. Eur J Med Genet. 54(1):34-41, 2011
                                9. Sepulveda W et al: Fetal spinal anomalies in a first-trimester sonographic screening program for aneuploidy. Prenat Diagn. 31(1):107-14, 2011
                                10. Aguinaga M et al: Sonic hedgehog mutation analysis in patients with VACTERL association. Am J Med Genet A. 152A(3):781-3, 2010
                                11. Castori M et al: Sirenomelia and VACTERL association in the offspring of a woman with diabetes. Am J Med Genet A. 152A(7):1803-7, 2010
                                12. Lyngdoh TS et al: Lumbocostovertebral syndrome with associated VACTERL anomaly. J Pediatr Surg. 45(9):e15-7, 2010
                                13. 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
                                14. Avcu S et al: Report of a girl with vacterl syndrome and right pulmonary agenesis. Genet Couns. 20(4):379-83, 2009
                                15. Castori M et al: VACTERL association and maternal diabetes: a possible causal relationship? Birth Defects Res A Clin Mol Teratol. 82(3):169-72, 2008
                                16. Garcia-Barceló MM et al: Identification of a HOXD13 mutation in a VACTERL patient. Am J Med Genet A. 146A(24):3181-5, 2008
                                Related Anatomy
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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 fistula with Esophageal atresia
                                            • Renal anomalies
                                            • Limb defects (primarily radial ray)
                                          • VATER includes vertebral, anal atresia, TE fistula with esophageal atresia, renal/radial defects
                                          • At least 3 features should be present to consider diagnosis

                                        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

                                                              1. Reutter H et al: Underlying genetic factors of the VATER/VACTERL association with special emphasis on the "Renal" phenotype. Pediatr Nephrol. ePub, 2016
                                                              2. Basude S et al: Fetal hemivertebra: associations and perinatal outcome. Ultrasound Obstet Gynecol. 45(4):434-8, 2015
                                                              3. Cunningham BK et al: Analysis of renal anomalies in VACTERL association. Birth Defects Res A Clin Mol Teratol. 100(10):801-5, 2014
                                                              4. 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
                                                              5. Cunningham BK et al: Analysis of cardiac anomalies in VACTERL association. Birth Defects Res A Clin Mol Teratol. 97(12):792-7, 2013
                                                              6. Bartels E et al: VATER/VACTERL association: identification of seven new twin pairs, a systematic review of the literature, and a classical twin analysis. Clin Dysmorphol. 21(4):191-5, 2012
                                                              7. Solomon BD et al: Clinical geneticists' views of VACTERL/VATER association. Am J Med Genet A. 158A(12):3087-100, 2012
                                                              8. Raam MS et al: Long-term outcomes of adults with features of VACTERL association. Eur J Med Genet. 54(1):34-41, 2011
                                                              9. Sepulveda W et al: Fetal spinal anomalies in a first-trimester sonographic screening program for aneuploidy. Prenat Diagn. 31(1):107-14, 2011
                                                              10. Aguinaga M et al: Sonic hedgehog mutation analysis in patients with VACTERL association. Am J Med Genet A. 152A(3):781-3, 2010
                                                              11. Castori M et al: Sirenomelia and VACTERL association in the offspring of a woman with diabetes. Am J Med Genet A. 152A(7):1803-7, 2010
                                                              12. Lyngdoh TS et al: Lumbocostovertebral syndrome with associated VACTERL anomaly. J Pediatr Surg. 45(9):e15-7, 2010
                                                              13. 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
                                                              14. Avcu S et al: Report of a girl with vacterl syndrome and right pulmonary agenesis. Genet Couns. 20(4):379-83, 2009
                                                              15. Castori M et al: VACTERL association and maternal diabetes: a possible causal relationship? Birth Defects Res A Clin Mol Teratol. 82(3):169-72, 2008
                                                              16. Garcia-Barceló MM et al: Identification of a HOXD13 mutation in a VACTERL patient. Am J Med Genet A. 146A(24):3181-5, 2008