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Congenital atresia of large intestine

MedGen UID:
576815
•Concept ID:
C0345203
•
Congenital Abnormality
Synonyms: Atresia of large intestine; Atresia of the Large Intestine; Congenital Large Intestinal Atresia; Large Intestine Atresia
SNOMED CT: Congenital atresia of large intestine (204711007); Atresia of large intestine (204711007)

Definition

A malformation characterized by the absence of a normal opening in a part of the large intestine. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital atresia of large intestine

Professional guidelines

PubMed

Management of Congenital Urethral Strictures In Infants. Case Series.
Gobbi D, Fascetti Leon F, Gnech M, Midrio P, Gamba P, Castagnetti M
Urol J 2019 Feb 21;16(1):67-71. doi: 10.22037/uj.v0i0.4045. PMID: 30058064
Classification and diagnostic criteria of variants of Hirschsprung's disease.
Friedmacher F, Puri P
Pediatr Surg Int 2013 Sep;29(9):855-72. doi: 10.1007/s00383-013-3351-3. PMID: 23943250
Female pelvic congenital malformations. Part I: embryology, anatomy and surgical treatment.
Laterza RM, De Gennaro M, Tubaro A, Koelbl H
Eur J Obstet Gynecol Reprod Biol 2011 Nov;159(1):26-34. Epub 2011 Jul 23 doi: 10.1016/j.ejogrb.2011.06.042. PMID: 21783316

Recent clinical studies

Etiology

Clinical Presentations and Diagnostic Imaging of VACTERL Association.
Tonni G, Koçak Ç, Grisolia G, Rizzo G, Araujo Júnior E, Werner H, Ruano R, Sepulveda W, Bonasoni MP, Lituania M; “International Perinatology Research Group (IPRG)”
Fetal Pediatr Pathol 2023 Aug;42(4):651-674. Epub 2023 May 17 doi: 10.1080/15513815.2023.2206905. PMID: 37195727
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
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
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
Atresia of the colon.
Etensel B, Temir G, Karkiner A, Melek M, Edirne Y, Karaca I, Mir E
J Pediatr Surg 2005 Aug;40(8):1258-68. doi: 10.1016/j.jpedsurg.2005.05.008. PMID: 16080929

Diagnosis

Congenital segmental dilatation of the intestine: an in-depth review.
Zeng FTA, Makaba SM, Hager J, Sergi CM
J Matern Fetal Neonatal Med 2023 Dec;36(2):2259047. Epub 2023 Sep 19 doi: 10.1080/14767058.2023.2259047. PMID: 37726217
Clinical Presentations and Diagnostic Imaging of VACTERL Association.
Tonni G, Koçak Ç, Grisolia G, Rizzo G, Araujo Júnior E, Werner H, Ruano R, Sepulveda W, Bonasoni MP, Lituania M; “International Perinatology Research Group (IPRG)”
Fetal Pediatr Pathol 2023 Aug;42(4):651-674. Epub 2023 May 17 doi: 10.1080/15513815.2023.2206905. PMID: 37195727
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
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
Atresia of the colon.
Etensel B, Temir G, Karkiner A, Melek M, Edirne Y, Karaca I, Mir E
J Pediatr Surg 2005 Aug;40(8):1258-68. doi: 10.1016/j.jpedsurg.2005.05.008. PMID: 16080929

Therapy

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
NAD Deficiency, Congenital Malformations, and Niacin Supplementation.
Shi H, Enriquez A, Rapadas M, Martin EMMA, Wang R, Moreau J, Lim CK, Szot JO, Ip E, Hughes JN, Sugimoto K, Humphreys DT, McInerney-Leo AM, Leo PJ, Maghzal GJ, Halliday J, Smith J, Colley A, Mark PR, Collins F, Sillence DO, Winlaw DS, Ho JWK, Guillemin GJ, Brown MA, Kikuchi K, Thomas PQ, Stocker R, Giannoulatou E, Chapman G, Duncan EL, Sparrow DB, Dunwoodie SL
N Engl J Med 2017 Aug 10;377(6):544-552. doi: 10.1056/NEJMoa1616361. PMID: 28792876
Gastrocolic fistulae; From Haller till nowadays.
Stamatakos M, Karaiskos I, Pateras I, Alexiou I, Stefanaki C, Kontzoglou K
Int J Surg 2012;10(3):129-33. Epub 2012 Feb 20 doi: 10.1016/j.ijsu.2012.02.011. PMID: 22361308
Atresia of the colon.
Etensel B, Temir G, Karkiner A, Melek M, Edirne Y, Karaca I, Mir E
J Pediatr Surg 2005 Aug;40(8):1258-68. doi: 10.1016/j.jpedsurg.2005.05.008. PMID: 16080929
Congenital short colon.
Wakhlu AK, Wakhlu A, Pandey A, Agarwal R, Tandon RK, Kureel SN
World J Surg 1996 Jan;20(1):107-14. doi: 10.1007/s002689900019. PMID: 8588400

Prognosis

NAD Deficiency, Congenital Malformations, and Niacin Supplementation.
Shi H, Enriquez A, Rapadas M, Martin EMMA, Wang R, Moreau J, Lim CK, Szot JO, Ip E, Hughes JN, Sugimoto K, Humphreys DT, McInerney-Leo AM, Leo PJ, Maghzal GJ, Halliday J, Smith J, Colley A, Mark PR, Collins F, Sillence DO, Winlaw DS, Ho JWK, Guillemin GJ, Brown MA, Kikuchi K, Thomas PQ, Stocker R, Giannoulatou E, Chapman G, Duncan EL, Sparrow DB, Dunwoodie SL
N Engl J Med 2017 Aug 10;377(6):544-552. doi: 10.1056/NEJMoa1616361. PMID: 28792876
Congenital diseases of the gastrointestinal tract.
Lentze M
Georgian Med News 2014 May;(230):46-53. PMID: 24940857
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
Atresia of the colon.
Etensel B, Temir G, Karkiner A, Melek M, Edirne Y, Karaca I, Mir E
J Pediatr Surg 2005 Aug;40(8):1258-68. doi: 10.1016/j.jpedsurg.2005.05.008. PMID: 16080929
Congenital short colon.
Wakhlu AK, Wakhlu A, Pandey A, Agarwal R, Tandon RK, Kureel SN
World J Surg 1996 Jan;20(1):107-14. doi: 10.1007/s002689900019. PMID: 8588400

Clinical prediction guides

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
Significance of the 'line sign' in the diagnosis of congenital imperforate anus on prenatal ultrasound.
Yin C, Tong L, Nie D, Fei Z, Tan X, Ma M
BMC Pediatr 2022 Jan 3;22(1):15. doi: 10.1186/s12887-021-03084-2. PMID: 34980064Free PMC Article
NAD Deficiency, Congenital Malformations, and Niacin Supplementation.
Shi H, Enriquez A, Rapadas M, Martin EMMA, Wang R, Moreau J, Lim CK, Szot JO, Ip E, Hughes JN, Sugimoto K, Humphreys DT, McInerney-Leo AM, Leo PJ, Maghzal GJ, Halliday J, Smith J, Colley A, Mark PR, Collins F, Sillence DO, Winlaw DS, Ho JWK, Guillemin GJ, Brown MA, Kikuchi K, Thomas PQ, Stocker R, Giannoulatou E, Chapman G, Duncan EL, Sparrow DB, Dunwoodie SL
N Engl J Med 2017 Aug 10;377(6):544-552. doi: 10.1056/NEJMoa1616361. PMID: 28792876
Sirenomelia: A Multi-systemic Polytopic Field Defect with Ongoing Controversies.
Boer LL, Morava E, Klein WM, Schepens-Franke AN, Oostra RJ
Birth Defects Res 2017 Jun 1;109(10):791-804. Epub 2017 May 16 doi: 10.1002/bdr2.1049. PMID: 28509418
Clinical and etiological heterogeneity in patients with tracheo-esophageal malformations and associated anomalies.
Brosens E, Ploeg M, van Bever Y, Koopmans AE, IJsselstijn H, Rottier RJ, Wijnen R, Tibboel D, de Klein A
Eur J Med Genet 2014 Aug;57(8):440-52. Epub 2014 Jun 13 doi: 10.1016/j.ejmg.2014.05.009. PMID: 24931924

Recent systematic reviews

Accessory Auricles: Systematic Review of Definition, Associated Conditions, and Recommendations for Clinical Practice.
Amirhassankhani S, Lloyd MS
J Craniofac Surg 2018 Mar;29(2):372-375. doi: 10.1097/SCS.0000000000004201. PMID: 29239919
Diversities of H-type anorectal malformation: a systematic review on a rare variant of the Krickenbeck classification.
Sharma S, Gupta DK
Pediatr Surg Int 2017 Jan;33(1):3-13. Epub 2016 Oct 1 doi: 10.1007/s00383-016-3982-2. PMID: 27695999
Perioperative Nutritional Management in Congenital Perineal and Vestibular Fistulas: A Systematic Review.
Hofmeester MJ, Draaisma JM, Versteegh HP, Huibregtse EC, van Rooij IA, de Blaauw I
Eur J Pediatr Surg 2015 Oct;25(5):389-96. Epub 2015 Feb 5 doi: 10.1055/s-0034-1544052. PMID: 25654619
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
Megacystis microcolon intestinal hypoperistalsis syndrome: systematic review of outcome.
Gosemann JH, Puri P
Pediatr Surg Int 2011 Oct;27(10):1041-6. doi: 10.1007/s00383-011-2954-9. PMID: 21792650

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