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Congenital Abnormality of the Large Intestine

MedGen UID:
476117
•Concept ID:
C3274484
•
Disease or Syndrome

Definition

A malformation in any part of the large intestine that is present at birth. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital Abnormality of the Large Intestine

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
Hirschsprung Disease - Current Diagnosis and Management.
Das K, Mohanty S
Indian J Pediatr 2017 Aug;84(8):618-623. Epub 2017 Jun 10 doi: 10.1007/s12098-017-2371-8. PMID: 28600660
Pediatric Surgery.
Iwanaka T, Yamataka A, Uemura S, Okuyama H, Segawa O, Nio M, Yoshizawa J, Yagi M, Ieiri S, Uchida H, Koga H, Sato M, Soh H, Take H, Hirose R, Fukuzawa H, Mizuno M, Watanabe T
Asian J Endosc Surg 2015 Nov;8(4):390-407. doi: 10.1111/ases.12263. PMID: 26708583

Recent clinical studies

Etiology

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
Maternal risk factors for the VACTERL association: A EUROCAT case-control study.
van de Putte R, van Rooij IALM, Haanappel CP, Marcelis CLM, Brunner HG, Addor MC, Cavero-Carbonell C, Dias CM, Draper ES, Etxebarriarteun L, Gatt M, Khoshnood B, Kinsner-Ovaskainen A, Klungsoyr K, Kurinczuk JJ, Latos-Bielenska A, Luyt K, O'Mahony MT, Miller N, Mullaney C, Nelen V, Neville AJ, Perthus I, Pierini A, Randrianaivo H, Rankin J, Rissmann A, Rouget F, Schaub B, Tucker D, Wellesley D, Wiesel A, Zymak-Zakutnia N, Loane M, Barisic I, de Walle HEK, Bergman JEH, Roeleveld N
Birth Defects Res 2020 May 15;112(9):688-698. Epub 2020 Apr 22 doi: 10.1002/bdr2.1686. PMID: 32319733Free PMC Article
The etiology of VACTERL association: Current knowledge and hypotheses.
Solomon BD
Am J Med Genet C Semin Med Genet 2018 Dec;178(4):440-446. doi: 10.1002/ajmg.c.31664. PMID: 30580478
Pygopagus Conjoined Twins: A Neurophysiologic Intraoperative Monitoring Schema.
Cromeens BP, McKinney JL, Leonard JR, Governale LS, Brown JL, Henry CM, Levitt MA, Wood RJ, Besner GE, Islam MP
J Clin Neurophysiol 2017 Mar;34(2):e5-e8. doi: 10.1097/WNP.0000000000000343. PMID: 27749617
Giant stone in enterocystoplasty.
Gacci M, Cai T, Travaglini F, Rizzo M, Bartoletti R, Carini M
Urol Int 2005;75(2):181-3. doi: 10.1159/000087175. PMID: 16123575

Diagnosis

Currarino triad.
Baalaan KP, Gurunathan N
Pan Afr Med J 2022;41:143. Epub 2022 Feb 17 doi: 10.11604/pamj.2022.41.143.33419. PMID: 35519164Free PMC Article
Congenital Pouch Colon: Further Histopathological Perspectives.
Singh N, Mohanty S, Kalegowda IY, Rout P
Fetal Pediatr Pathol 2022 Oct;41(5):881-888. Epub 2021 Nov 12 doi: 10.1080/15513815.2021.1998265. PMID: 34766541
Forward-Perspectives in Pediatric Pathology: Hirschsprung Disease.
Rogers BB
Pediatr Dev Pathol 2020 Jan-Feb;23(1):3. Epub 2019 Dec 10 doi: 10.1177/1093526619893138. PMID: 31822165
Diagnosis of Hirschsprung Disease.
Ambartsumyan L, Smith C, Kapur RP
Pediatr Dev Pathol 2020 Jan-Feb;23(1):8-22. Epub 2019 Dec 2 doi: 10.1177/1093526619892351. PMID: 31791203
VACTERL/VATER Association.
Solomon BD
Orphanet J Rare Dis 2011 Aug 16;6:56. doi: 10.1186/1750-1172-6-56. PMID: 21846383Free PMC Article

Therapy

Functional outcomes of patients with short-segment Hirschsprung disease after transanal endorectal pull-through.
Gunadi, Ivana G, Mursalin DA, Pitaka RT, Zain MW, Puspitarani DA, Afandy D, Simanjaya S, Dwihantoro A, Makhmudi A
BMC Gastroenterol 2021 Feb 23;21(1):85. doi: 10.1186/s12876-021-01668-x. PMID: 33622253Free PMC Article
Radial Ray Malformation.
Society for Maternal-Fetal Medicine (SMFM), Gandhi M, Rac MWF, McKinney J
Am J Obstet Gynecol 2019 Dec;221(6):B16-B18. doi: 10.1016/j.ajog.2019.09.024. PMID: 31787159
Ureterosigmoidostomy.
Zimmer V, Lammert F
Dig Liver Dis 2019 Nov;51(11):1618. Epub 2019 Sep 30 doi: 10.1016/j.dld.2019.08.026. PMID: 31582325
Hirschsprung disease.
Dasgupta R, Langer JC
Curr Probl Surg 2004 Dec;41(12):942-88. doi: 10.1067/j.cpsurg.2004.09.004. PMID: 15614238
Transexual surgery.
Markland C
Obstet Gynecol Annu 1975;4:309-30. PMID: 1095990

Prognosis

Forward-Perspectives in Pediatric Pathology: Hirschsprung Disease.
Rogers BB
Pediatr Dev Pathol 2020 Jan-Feb;23(1):3. Epub 2019 Dec 10 doi: 10.1177/1093526619893138. PMID: 31822165
Diagnosis of Hirschsprung Disease.
Ambartsumyan L, Smith C, Kapur RP
Pediatr Dev Pathol 2020 Jan-Feb;23(1):8-22. Epub 2019 Dec 2 doi: 10.1177/1093526619892351. PMID: 31791203
VACTERL/VATER Association.
Solomon BD
Orphanet J Rare Dis 2011 Aug 16;6:56. doi: 10.1186/1750-1172-6-56. PMID: 21846383Free PMC Article
Giant stone in enterocystoplasty.
Gacci M, Cai T, Travaglini F, Rizzo M, Bartoletti R, Carini M
Urol Int 2005;75(2):181-3. doi: 10.1159/000087175. PMID: 16123575
Complications of enterocystoplasty.
Khoury JM, Timmons SL, Corbel L, Webster GD
Urology 1992 Jul;40(1):9-14. doi: 10.1016/0090-4295(92)90428-y. PMID: 1621320

Clinical prediction guides

Nationwide outcomes of newborns with rectosigmoid versus long-segment Hirschsprung disease.
Huerta CT, Ramsey WA, Davis JK, Saberi RA, Gilna GP, Parreco JP, Sola JE, Perez EA, Thorson CM
J Pediatr Surg 2023 May;58(5):849-855. Epub 2023 Jan 5 doi: 10.1016/j.jpedsurg.2023.01.001. PMID: 36732132
Risk factors for short-term complications graded by Clavien-Dindo after transanal endorectal pull-through in patients with Hirschsprung disease.
Beltman L, Roorda D, Backes M, Oosterlaan J, van Heurn LWE, Derikx JPM
J Pediatr Surg 2022 Aug;57(8):1460-1466. Epub 2021 Aug 1 doi: 10.1016/j.jpedsurg.2021.07.024. PMID: 34452757
Delayed presentation of anorectal malformations in a tertiary care hospital in India.
Divya G, Kundal VK, Debnath PR, Addagatla R, Garbhapu AK, Sen A, Saha AK, Meena AK, Shah S, Syal S, Khanna C, Dotikalkar R, Gautam V
Pediatr Surg Int 2021 Apr;37(4):451-456. Epub 2021 Jan 15 doi: 10.1007/s00383-020-04843-5. PMID: 33449157
Forward-Perspectives in Pediatric Pathology: Hirschsprung Disease.
Rogers BB
Pediatr Dev Pathol 2020 Jan-Feb;23(1):3. Epub 2019 Dec 10 doi: 10.1177/1093526619893138. PMID: 31822165
Diagnosis of Hirschsprung Disease.
Ambartsumyan L, Smith C, Kapur RP
Pediatr Dev Pathol 2020 Jan-Feb;23(1):8-22. Epub 2019 Dec 2 doi: 10.1177/1093526619892351. PMID: 31791203

Recent systematic reviews

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
Bochdalek hernias in the adult population: a systematic review of the literature.
Katsaros I, Giannopoulos S, Katelani S, Vailas M, Sotiropoulou M, Papaconstantinou D, Giannakodimos I, Kapetanakis EI, Tomos P, Schizas D
ANZ J Surg 2022 Sep;92(9):2037-2042. Epub 2022 Mar 31 doi: 10.1111/ans.17651. PMID: 35357073
One-stage repair of anorectal malformations in females with vestibular fistula: a systematic review and meta-analysis.
Lauriti G, Di Renzo D, Lelli Chiesa P, Zani A, Pierro A
Pediatr Surg Int 2019 Jan;35(1):77-85. Epub 2018 Oct 30 doi: 10.1007/s00383-018-4378-2. PMID: 30377757
Genetic and nongenetic etiology of nonsyndromic anorectal malformations: a systematic review.
Wijers CH, van Rooij IA, Marcelis CL, Brunner HG, de Blaauw I, Roeleveld N
Birth Defects Res C Embryo Today 2014 Dec;102(4):382-400. doi: 10.1002/bdrc.21068. PMID: 25546370
The influence of anorectal malformations on fertility: a systematic review.
Huibregtse EC, Draaisma JM, Hofmeester MJ, Kluivers K, van Rooij IA, de Blaauw I
Pediatr Surg Int 2014 Aug;30(8):773-81. Epub 2014 Jun 27 doi: 10.1007/s00383-014-3535-5. PMID: 24969818

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