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Anorectal malformation

MedGen UID:
988249
•Concept ID:
CN305294
•
Disease or Syndrome
Synonyms: anorectal malformation; ARM
 
Monarch Initiative: MONDO:0019938
Orphanet: ORPHA96346

Professional guidelines

PubMed

Advances in the Management of the Neonate Born with an Anorectal Malformation.
King SK, Levitt MA
Clin Perinatol 2022 Dec;49(4):965-979. Epub 2022 Oct 9 doi: 10.1016/j.clp.2022.08.002. PMID: 36328611
Reconsidering Diagnosis, Treatment, and Postoperative Care in Children with Cloacal Malformations.
Versteegh HP, Gardner DS, Scriven L, Martens L, Kluivers K, Hewitt G, de Blaauw I, Wood RJ, Williams A, Sutcliffe J; MICRO Group
J Pediatr Adolesc Gynecol 2021 Dec;34(6):773-779. Epub 2021 Aug 20 doi: 10.1016/j.jpag.2021.08.009. PMID: 34419606
Prenatal diagnosis of cloacal malformation.
Peiro JL, Scorletti F, Sbragia L
Semin Pediatr Surg 2016 Apr;25(2):71-5. Epub 2015 Nov 10 doi: 10.1053/j.sempedsurg.2015.11.004. PMID: 26969229

Recent clinical studies

Etiology

Rectal Prolapse Following Repair of Anorectal Malformation: Incidence, Risk Factors, and Management.
Iantorno SE, Rollins MD, Austin K, Avansino JR, Badillo A, Calkins CM, Crady RC, Dickie BH, Durham MM, Frischer JS, Fuller MK, Grabowski JE, Ralls MW, Reeder RW, Rentea RM, Saadai P, Wood RJ, van Leeuwen KD, Short SS; Pediatric Colorectal and Pelvic Learning Consortium
J Pediatr Surg 2023 Aug;58(8):1588-1593. Epub 2023 Apr 20 doi: 10.1016/j.jpedsurg.2023.04.010. PMID: 37173214
Embryology and anatomy of anorectal malformations.
Miyake Y, Lane GJ, Yamataka A
Semin Pediatr Surg 2022 Dec;31(6):151226. Epub 2022 Nov 16 doi: 10.1016/j.sempedsurg.2022.151226. PMID: 36417783
Gastrointestinal Emergency in Neonates and Infants: A Pictorial Essay.
Choi G, Je BK, Kim YJ
Korean J Radiol 2022 Jan;23(1):124-138. doi: 10.3348/kjr.2021.0111. PMID: 34983099Free PMC Article
The surgical treatment of cloaca.
Bischoff A
Semin Pediatr Surg 2016 Apr;25(2):102-7. Epub 2015 Nov 11 doi: 10.1053/j.sempedsurg.2015.11.009. PMID: 26969234
Anorectal malformation: the etiological factors.
Wang C, Li L, Cheng W
Pediatr Surg Int 2015 Sep;31(9):795-804. Epub 2015 Apr 22 doi: 10.1007/s00383-015-3685-0. PMID: 25899933

Diagnosis

Advances in the Management of the Neonate Born with an Anorectal Malformation.
King SK, Levitt MA
Clin Perinatol 2022 Dec;49(4):965-979. Epub 2022 Oct 9 doi: 10.1016/j.clp.2022.08.002. PMID: 36328611
Gastrointestinal Emergency in Neonates and Infants: A Pictorial Essay.
Choi G, Je BK, Kim YJ
Korean J Radiol 2022 Jan;23(1):124-138. doi: 10.3348/kjr.2021.0111. PMID: 34983099Free PMC Article
Currarino syndrome: a comprehensive genetic review of a rare congenital disorder.
Dworschak GC, Reutter HM, Ludwig M
Orphanet J Rare Dis 2021 Apr 9;16(1):167. doi: 10.1186/s13023-021-01799-0. PMID: 33836786Free PMC Article
Feeding problems and gastrointestinal diseases in Down syndrome.
Ravel A, Mircher C, Rebillat AS, Cieuta-Walti C, Megarbane A
Arch Pediatr 2020 Jan;27(1):53-60. Epub 2019 Nov 26 doi: 10.1016/j.arcped.2019.11.008. PMID: 31784293
Understanding cloacal anomalies.
Warne SA, Hiorns MP, Curry J, Mushtaq I
Arch Dis Child 2011 Nov;96(11):1072-6. Epub 2011 Jan 23 doi: 10.1136/adc.2009.175034. PMID: 21262748

Therapy

Approach to Constipation in Children: Recommendations for Evaluation and Management.
Maselli KM, Shah NR, Speck KE
Adv Pediatr 2024 Aug;71(1):195-211. Epub 2024 May 22 doi: 10.1016/j.yapd.2024.04.001. PMID: 38944484
Pattern of anatomic disorder and surgical management of anorectal prolapse in anorectal malformation.
Li L, Zhou Y, Ming A, Xu H, Li Q, Li X, Huang G, Tian Y, Wu Y, Tai J, Xie X, Tam PKH, Gu Q, Diao M
Pediatr Surg Int 2022 Jul;38(7):993-1004. Epub 2022 May 20 doi: 10.1007/s00383-022-05141-y. PMID: 35596086
Laparoscopically assisted anorectoplasty-Surgical procedures and outcomes: A literature review.
Ishimaru T, Kawashima H, Hayashi K, Omata K, Sanmoto Y, Inoue M
Asian J Endosc Surg 2021 Jul;14(3):335-345. Epub 2020 Oct 8 doi: 10.1111/ases.12877. PMID: 33029900
General complications after surgery for anorectal malformations.
Divarci E, Ergun O
Pediatr Surg Int 2020 Apr;36(4):431-445. Epub 2020 Feb 21 doi: 10.1007/s00383-020-04629-9. PMID: 32086570
Is Pouch Specific to Colon and Not Ileum?
Gupta S, Tiwari P, Gupta N, Nunia V, Saxena AK, Simlot A, Kothari SL, Suravajhala P, Medicherla KM, Mathur P
Curr Pediatr Rev 2019;15(4):259-264. doi: 10.2174/1573396315666190829155930. PMID: 31465285Free PMC Article

Prognosis

Rectal Prolapse Following Repair of Anorectal Malformation: Incidence, Risk Factors, and Management.
Iantorno SE, Rollins MD, Austin K, Avansino JR, Badillo A, Calkins CM, Crady RC, Dickie BH, Durham MM, Frischer JS, Fuller MK, Grabowski JE, Ralls MW, Reeder RW, Rentea RM, Saadai P, Wood RJ, van Leeuwen KD, Short SS; Pediatric Colorectal and Pelvic Learning Consortium
J Pediatr Surg 2023 Aug;58(8):1588-1593. Epub 2023 Apr 20 doi: 10.1016/j.jpedsurg.2023.04.010. PMID: 37173214
Embryology and anatomy of anorectal malformations.
Miyake Y, Lane GJ, Yamataka A
Semin Pediatr Surg 2022 Dec;31(6):151226. Epub 2022 Nov 16 doi: 10.1016/j.sempedsurg.2022.151226. PMID: 36417783
The surgical treatment of cloaca.
Bischoff A
Semin Pediatr Surg 2016 Apr;25(2):102-7. Epub 2015 Nov 11 doi: 10.1053/j.sempedsurg.2015.11.009. PMID: 26969234
Understanding cloacal anomalies.
Warne SA, Hiorns MP, Curry J, Mushtaq I
Arch Dis Child 2011 Nov;96(11):1072-6. Epub 2011 Jan 23 doi: 10.1136/adc.2009.175034. PMID: 21262748
Embryology of anorectal malformations.
Kluth D
Semin Pediatr Surg 2010 Aug;19(3):201-8. doi: 10.1053/j.sempedsurg.2010.03.005. PMID: 20610193

Clinical prediction guides

The long-term post-surgical outcome of intermediate anorectal malformation in our department.
Tamura R, Kido M, Nakamura K, Kuwahara T, Hirotani T, Yasui Y, Okajima H
Pediatr Surg Int 2024 Sep 23;40(1):253. doi: 10.1007/s00383-024-05833-7. PMID: 39311969
Embryology and anatomy of anorectal malformations.
Miyake Y, Lane GJ, Yamataka A
Semin Pediatr Surg 2022 Dec;31(6):151226. Epub 2022 Nov 16 doi: 10.1016/j.sempedsurg.2022.151226. PMID: 36417783
Clinical and genetic approach in the characterization of newborns with anorectal malformation.
Schierz IAM, Piro E, Giuffrè M, Pinello G, Angelini A, Antona V, Cimador M, Corsello G
J Matern Fetal Neonatal Med 2022 Dec;35(23):4513-4520. Epub 2020 Dec 1 doi: 10.1080/14767058.2020.1854213. PMID: 36062518
Long-term urology outcomes of anorectal malformation.
Chong C, Hamza Y, Tan YW, Paul A, Garriboli M, Wright AJ, Olsburgh J, Taylor C, Sinha MD, Mishra P, Taghizadeh A
J Pediatr Urol 2022 Apr;18(2):150.e1-150.e6. Epub 2022 Feb 7 doi: 10.1016/j.jpurol.2022.01.019. PMID: 35283020
Currarino syndrome: a comprehensive genetic review of a rare congenital disorder.
Dworschak GC, Reutter HM, Ludwig M
Orphanet J Rare Dis 2021 Apr 9;16(1):167. doi: 10.1186/s13023-021-01799-0. PMID: 33836786Free PMC Article

Recent systematic reviews

Robotic-assisted pull-through procedures for anorectal malformation: a systematic review.
Sharma S, Geetha V
Pediatr Surg Int 2024 Jul 16;40(1):194. doi: 10.1007/s00383-024-05782-1. PMID: 39014174
Classification and Surgical Management of Anorectal Malformations: A Systematic Review and Evidence-based Guideline From the APSA Outcomes and Evidence-based Practice Committee.
Smith CA, Rialon KL, Kawaguchi A, Dellinger MB, Goldin AB, Acker S, Kulaylat AN, Chang H, Russell K, Wakeman D, Derderian SC, Englum BR, Polites SF, Lucas DJ, Ricca R, Levene TL, Sulkowski JP, Kelley-Quon LI, Tashiro J, Christison-Lagay ER, Mansfield SA, Beres AL, Huerta CT, Ben Ham P 3rd, Yousef Y, Rentea RM; APSA Outcomes and Evidence Based Practice Committee
J Pediatr Surg 2024 Oct;59(10):161598. Epub 2024 Jun 14 doi: 10.1016/j.jpedsurg.2024.06.007. PMID: 38997855
Utility of postoperative anorectal manometry in children with anorectal malformation: a systematic review.
Rajasegaran S, Tan WS, Ezrien DE, Sanmugam A, Singaravel S, Nah SA
Pediatr Surg Int 2022 Aug;38(8):1089-1097. Epub 2022 Jun 21 doi: 10.1007/s00383-022-05152-9. PMID: 35727358
Concurrent Hirschsprung's disease and anorectal malformation: a systematic review.
Nakamura H, Puri P
Pediatr Surg Int 2020 Jan;36(1):21-24. Epub 2019 Sep 24 doi: 10.1007/s00383-019-04580-4. PMID: 31552492
Association of Hirschsprung's disease and anorectal malformation: a systematic review.
Hofmann AD, Puri P
Pediatr Surg Int 2013 Sep;29(9):913-7. doi: 10.1007/s00383-013-3352-2. PMID: 23948812

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