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Anorectal Malformations
Steven J. Kraus, MD
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KEY FACTS

  • Imaging

    • Top Differential Diagnoses

      • Pathology

        • Clinical Issues

          TERMINOLOGY

          • Synonyms

            • Imperforate anus
          • Definitions

            • Anorectal malformation (ARM): Spectrum of congenital anomalies related to abnormal development of anorectal canal
            • Diagnosis of ARM made by clinical exam
            • Imaging used to identify associated anomalies, plan operations, & evaluate postoperative complications
            • Evolution of ARM classification: Traditionally as high, intermediate, or low (relative to pubococcygeal line)
              • Inconsistent, inaccurate, & of little prognostic importance
              • Current (Peña or Krickenbeck): By specific malformation with therapeutic & prognostic implications
            • Cloaca: Subtype of ARM in girls; rectum, vagina, & bladder converge into common channel → single perineal orifice
            • Definitive repair as neonate vs. divided colostomy with delayed distal colostogram & definitive repair
            • Posterior sagittal anorectoplasty (PSARP): Definitive surgical reconstruction for most ARMs

          IMAGING

          • General Features

            • Radiographic Findings

              • Fluoroscopic Findings

                • MR Findings

                  • Ultrasonographic Findings

                    • Imaging Recommendations

                      DIFFERENTIAL DIAGNOSIS

                        PATHOLOGY

                        • General Features

                          • Gross Pathologic & Surgical Features

                            CLINICAL ISSUES

                            • Presentation

                              • Demographics

                                • Treatment

                                  DIAGNOSTIC CHECKLIST

                                  • Consider

                                    Selected References

                                    1. Bischoff A: The surgical treatment of cloaca. Semin Pediatr Surg. 25(2):102-7, 2016
                                    2. Buyukbese Sarsu S et al: A very rare cause of anal atresia: Currarino syndrome. J Clin Med Res. 8(5):420-3, 2016
                                    3. Giuliani S et al: Long term follow-up and transition of care in anorectal malformations: An international survey. J Pediatr Surg. ePub, 2016
                                    4. Govender S et al: Delayed diagnosis of anorectal malformations (ARM): causes and consequences in a resource-constrained environment. Pediatr Surg Int. 32(4):369-75, 2016
                                    5. King SK et al: Colonic perforation in a neonate with an anorectal malformation. ANZ J Surg. 86(5):418-9, 2016
                                    6. Lane VA et al: Rectal atresia and anal stenosis: the difference in the operative technique for these two distinct congenital anorectal malformations. Tech Coloproctol. 20(4):249-54, 2016
                                    7. Lee MY et al: Sonographic determination of type in a fetal imperforate anus. J Ultrasound Med. 35(6):1285-91, 2016
                                    8. Liechty ST et al: The morbidity of a divided stoma compared to a loop colostomy in patients with anorectal malformation. J Pediatr Surg. 51(1):107-10, 2016
                                    9. Peiro JL et al: Prenatal diagnosis of cloacal malformation. Semin Pediatr Surg. 25(2):71-5, 2016
                                    10. Yang G et al: Imperforate anus with rectopenile fistula: a case report and systematic review of the literature. BMC Pediatr. 16(1):65, 2016
                                    11. Bischoff A et al: End stage renal disease and kidney transplant in patients with anorectal malformation: is there an alternative route? Pediatr Surg Int. 31(8):725-8, 2015
                                    12. Bischoff A et al: Laparoscopic approach in the management of anorectal malformations. Pediatr Surg Int. 31(5):431-7, 2015
                                    13. De la Torre-Mondragón L et al: Unexpected megarectum: a potential hidden source of complications in patients with anorectal malformation. J Pediatr Surg. 50(9):1560-2, 2015
                                    14. Gine C et al: Two-port laparoscopic descending colostomy with separated stomas for anorectal malformations in newborns. Eur J Pediatr Surg. ePub, 2015
                                    15. Thomeer MG et al: High resolution MRI for preoperative work-up of neonates with an anorectal malformation: a direct comparison with distal pressure colostography/fistulography. Eur Radiol. 25(12):3472-9, 2015
                                    16. Wang C et al: Anorectal malformation: the etiological factors. Pediatr Surg Int. 31(9):795-804, 2015
                                    17. Fernandez E et al: Esophageal atresia in patients with anorectal malformations. Pediatr Surg Int. 30(8):767-71, 2014
                                    18. Sanchez S et al: Vesicoureteral reflux and febrile urinary tract infections in anorectal malformations: a retrospective review. J Pediatr Surg. 49(1):91-4; discussion 94, 2014
                                    19. VanderBrink BA et al: Epididymitis in patients with anorectal malformations: a cause for urologic concern. Int Braz J Urol. 40(5):676-82, 2014
                                    20. Wetherill C et al: Hirschsprung disease and anorectal malformation. Early Hum Dev. 90(12):927-32, 2014
                                    21. Alves JC et al: Comparison of MR and fluoroscopic mucous fistulography in the pre-operative evaluation of infants with anorectal malformation: a pilot study. Pediatr Radiol. 43(8):958-63, 2013
                                    22. Bischoff A et al: Update on the management of anorectal malformations. Pediatr Surg Int. 29(9):899-904, 2013
                                    23. Podberesky DJ et al: Magnetic resonance imaging of anorectal malformations. Magn Reson Imaging Clin N Am. 21(4):791-812, 2013
                                    24. Podberesky DJ et al: MRI of acquired posterior urethral diverticulum following surgery for anorectal malformations. Pediatr Radiol. Epub ahead of print, 2011
                                    25. Bischoff A et al: Prenatal diagnosis of cloacal malformations. Pediatr Surg Int. 26(11):1071-5, 2010
                                    26. Levitt MA et al: The morbidity of constipation in patients with anorectal malformations. J Pediatr Surg. 45(6):1228-33, 2010
                                    27. Raschbaum GR et al: Magnetic resonance imaging-guided laparoscopic-assisted anorectoplasty for imperforate anus. J Pediatr Surg. 45(1):220-3, 2010
                                    28. Eltomey MA et al: Postoperative pelvic MRI of anorectal malformations. AJR Am J Roentgenol. 191(5):1469-76, 2008
                                    29. Levitt MA et al: Anorectal malformations. Orphanet J Rare Dis. 2:33, 2007
                                    30. Peña A et al: Reoperations in anorectal malformations. J Pediatr Surg. 42(2):318-25, 2007
                                    31. Levitt MA et al: Outcomes from the correction of anorectal malformations. Curr Opin Pediatr. 17(3):394-401, 2005
                                    32. Sydorak RM et al: Laparoscopic repair of high imperforate anus. Semin Pediatr Surg. 11(4):217-25, 2002
                                    33. Pena A et al: Advances in the management of anorectal malformations. Am J Surg. 180(5):370-6, 2000
                                    34. Kluth D et al: Current concepts in the embryology of anorectal malformations. Semin Pediatr Surg. 6(4):180-6, 1997
                                    35. Lerone M et al: The genetics of anorectal malformations: a complex matter. Semin Pediatr Surg. 6(4):170-9, 1997
                                    36. Pena A: Anorectal malformations. Semin Pediatr Surg. 4(1):35-47, 1995
                                    37. Pena A: Management of anorectal malformations during the newborn period. World J Surg. 17(3):385-92, 1993
                                    38. Gross GW et al: Augmented-pressure colostogram in imperforate anus with fistula. Pediatr Radiol. 21(8):560-2, 1991
                                    Related Anatomy
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                                    Related Differential Diagnoses
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                                    References
                                    Tables

                                    Tables

                                    KEY FACTS

                                    • Imaging

                                      • Top Differential Diagnoses

                                        • Pathology

                                          • Clinical Issues

                                            TERMINOLOGY

                                            • Synonyms

                                              • Imperforate anus
                                            • Definitions

                                              • Anorectal malformation (ARM): Spectrum of congenital anomalies related to abnormal development of anorectal canal
                                              • Diagnosis of ARM made by clinical exam
                                              • Imaging used to identify associated anomalies, plan operations, & evaluate postoperative complications
                                              • Evolution of ARM classification: Traditionally as high, intermediate, or low (relative to pubococcygeal line)
                                                • Inconsistent, inaccurate, & of little prognostic importance
                                                • Current (Peña or Krickenbeck): By specific malformation with therapeutic & prognostic implications
                                              • Cloaca: Subtype of ARM in girls; rectum, vagina, & bladder converge into common channel → single perineal orifice
                                              • Definitive repair as neonate vs. divided colostomy with delayed distal colostogram & definitive repair
                                              • Posterior sagittal anorectoplasty (PSARP): Definitive surgical reconstruction for most ARMs

                                            IMAGING

                                            • General Features

                                              • Radiographic Findings

                                                • Fluoroscopic Findings

                                                  • MR Findings

                                                    • Ultrasonographic Findings

                                                      • Imaging Recommendations

                                                        DIFFERENTIAL DIAGNOSIS

                                                          PATHOLOGY

                                                          • General Features

                                                            • Gross Pathologic & Surgical Features

                                                              CLINICAL ISSUES

                                                              • Presentation

                                                                • Demographics

                                                                  • Treatment

                                                                    DIAGNOSTIC CHECKLIST

                                                                    • Consider

                                                                      Selected References

                                                                      1. Bischoff A: The surgical treatment of cloaca. Semin Pediatr Surg. 25(2):102-7, 2016
                                                                      2. Buyukbese Sarsu S et al: A very rare cause of anal atresia: Currarino syndrome. J Clin Med Res. 8(5):420-3, 2016
                                                                      3. Giuliani S et al: Long term follow-up and transition of care in anorectal malformations: An international survey. J Pediatr Surg. ePub, 2016
                                                                      4. Govender S et al: Delayed diagnosis of anorectal malformations (ARM): causes and consequences in a resource-constrained environment. Pediatr Surg Int. 32(4):369-75, 2016
                                                                      5. King SK et al: Colonic perforation in a neonate with an anorectal malformation. ANZ J Surg. 86(5):418-9, 2016
                                                                      6. Lane VA et al: Rectal atresia and anal stenosis: the difference in the operative technique for these two distinct congenital anorectal malformations. Tech Coloproctol. 20(4):249-54, 2016
                                                                      7. Lee MY et al: Sonographic determination of type in a fetal imperforate anus. J Ultrasound Med. 35(6):1285-91, 2016
                                                                      8. Liechty ST et al: The morbidity of a divided stoma compared to a loop colostomy in patients with anorectal malformation. J Pediatr Surg. 51(1):107-10, 2016
                                                                      9. Peiro JL et al: Prenatal diagnosis of cloacal malformation. Semin Pediatr Surg. 25(2):71-5, 2016
                                                                      10. Yang G et al: Imperforate anus with rectopenile fistula: a case report and systematic review of the literature. BMC Pediatr. 16(1):65, 2016
                                                                      11. Bischoff A et al: End stage renal disease and kidney transplant in patients with anorectal malformation: is there an alternative route? Pediatr Surg Int. 31(8):725-8, 2015
                                                                      12. Bischoff A et al: Laparoscopic approach in the management of anorectal malformations. Pediatr Surg Int. 31(5):431-7, 2015
                                                                      13. De la Torre-Mondragón L et al: Unexpected megarectum: a potential hidden source of complications in patients with anorectal malformation. J Pediatr Surg. 50(9):1560-2, 2015
                                                                      14. Gine C et al: Two-port laparoscopic descending colostomy with separated stomas for anorectal malformations in newborns. Eur J Pediatr Surg. ePub, 2015
                                                                      15. Thomeer MG et al: High resolution MRI for preoperative work-up of neonates with an anorectal malformation: a direct comparison with distal pressure colostography/fistulography. Eur Radiol. 25(12):3472-9, 2015
                                                                      16. Wang C et al: Anorectal malformation: the etiological factors. Pediatr Surg Int. 31(9):795-804, 2015
                                                                      17. Fernandez E et al: Esophageal atresia in patients with anorectal malformations. Pediatr Surg Int. 30(8):767-71, 2014
                                                                      18. Sanchez S et al: Vesicoureteral reflux and febrile urinary tract infections in anorectal malformations: a retrospective review. J Pediatr Surg. 49(1):91-4; discussion 94, 2014
                                                                      19. VanderBrink BA et al: Epididymitis in patients with anorectal malformations: a cause for urologic concern. Int Braz J Urol. 40(5):676-82, 2014
                                                                      20. Wetherill C et al: Hirschsprung disease and anorectal malformation. Early Hum Dev. 90(12):927-32, 2014
                                                                      21. Alves JC et al: Comparison of MR and fluoroscopic mucous fistulography in the pre-operative evaluation of infants with anorectal malformation: a pilot study. Pediatr Radiol. 43(8):958-63, 2013
                                                                      22. Bischoff A et al: Update on the management of anorectal malformations. Pediatr Surg Int. 29(9):899-904, 2013
                                                                      23. Podberesky DJ et al: Magnetic resonance imaging of anorectal malformations. Magn Reson Imaging Clin N Am. 21(4):791-812, 2013
                                                                      24. Podberesky DJ et al: MRI of acquired posterior urethral diverticulum following surgery for anorectal malformations. Pediatr Radiol. Epub ahead of print, 2011
                                                                      25. Bischoff A et al: Prenatal diagnosis of cloacal malformations. Pediatr Surg Int. 26(11):1071-5, 2010
                                                                      26. Levitt MA et al: The morbidity of constipation in patients with anorectal malformations. J Pediatr Surg. 45(6):1228-33, 2010
                                                                      27. Raschbaum GR et al: Magnetic resonance imaging-guided laparoscopic-assisted anorectoplasty for imperforate anus. J Pediatr Surg. 45(1):220-3, 2010
                                                                      28. Eltomey MA et al: Postoperative pelvic MRI of anorectal malformations. AJR Am J Roentgenol. 191(5):1469-76, 2008
                                                                      29. Levitt MA et al: Anorectal malformations. Orphanet J Rare Dis. 2:33, 2007
                                                                      30. Peña A et al: Reoperations in anorectal malformations. J Pediatr Surg. 42(2):318-25, 2007
                                                                      31. Levitt MA et al: Outcomes from the correction of anorectal malformations. Curr Opin Pediatr. 17(3):394-401, 2005
                                                                      32. Sydorak RM et al: Laparoscopic repair of high imperforate anus. Semin Pediatr Surg. 11(4):217-25, 2002
                                                                      33. Pena A et al: Advances in the management of anorectal malformations. Am J Surg. 180(5):370-6, 2000
                                                                      34. Kluth D et al: Current concepts in the embryology of anorectal malformations. Semin Pediatr Surg. 6(4):180-6, 1997
                                                                      35. Lerone M et al: The genetics of anorectal malformations: a complex matter. Semin Pediatr Surg. 6(4):170-9, 1997
                                                                      36. Pena A: Anorectal malformations. Semin Pediatr Surg. 4(1):35-47, 1995
                                                                      37. Pena A: Management of anorectal malformations during the newborn period. World J Surg. 17(3):385-92, 1993
                                                                      38. Gross GW et al: Augmented-pressure colostogram in imperforate anus with fistula. Pediatr Radiol. 21(8):560-2, 1991