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Congenital anomaly of digestive tract

MedGen UID:
507640
Concept ID:
C0012241
Congenital Abnormality
Synonyms: Gastrointestinal anomalies; Gastrointestinal malformations
SNOMED CT: Congenital alimentary tract anomaly (95470009); Congenital digestive tract anomaly (95470009); Congenital anomaly of alimentary tract (95470009); Congenital anomaly of digestive tract (95470009); Congenital anomaly of gastrointestinal tract (128347007); Gastrointestinal tract congenital anomaly (128347007)

Professional guidelines

PubMed

Reidelberger K, Fingeret A
Surg Clin North Am 2021 Dec;101(6):1081-1096. doi: 10.1016/j.suc.2021.06.006. PMID: 34774270
Kuru S, Kismet K
Rev Esp Enferm Dig 2018 Nov;110(11):726-732. doi: 10.17235/reed.2018.5628/2018. PMID: 30032625
Gosain A, Frykman PK, Cowles RA, Horton J, Levitt M, Rothstein DH, Langer JC, Goldstein AM; American Pediatric Surgical Association Hirschsprung Disease Interest Group
Pediatr Surg Int 2017 May;33(5):517-521. Epub 2017 Feb 2 doi: 10.1007/s00383-017-4065-8. PMID: 28154902Free PMC Article

Recent clinical studies

Etiology

Marzano V, Levi Mortera S, Vernocchi P, Del Chierico F, Marangelo C, Guarrasi V, Gardini S, Dentici ML, Capolino R, Digilio MC, Di Donato M, Spasari I, Abreu MT, Dallapiccola B, Putignani L
Sci Rep 2023 Nov 3;13(1):18963. doi: 10.1038/s41598-023-46052-9. PMID: 37923896Free PMC Article
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
Solomon BD
Am J Med Genet C Semin Med Genet 2018 Dec;178(4):440-446. doi: 10.1002/ajmg.c.31664. PMID: 30580478
Choi SY, Hong SS, Park HJ, Lee HK, Shin HC, Choi GC
J Med Imaging Radiat Oncol 2017 Apr;61(2):225-231. Epub 2016 Aug 4 doi: 10.1111/1754-9485.12505. PMID: 27492813
Dogan DG, Dogan M, Aslan M, Menekse E, Yakinci C
Genet Couns 2010;21(4):359-62. PMID: 21290964

Diagnosis

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
Sobol SE
Curr Probl Pediatr Adolesc Health Care 2018 Mar;48(3):82-84. doi: 10.1016/j.cppeds.2018.01.007. PMID: 29571545
Strychowsky JE, Rahbar R
Semin Pediatr Surg 2016 Jun;25(3):128-31. Epub 2016 Feb 21 doi: 10.1053/j.sempedsurg.2016.02.005. PMID: 27301597
Butler Tjaden NE, Trainor PA
Transl Res 2013 Jul;162(1):1-15. Epub 2013 Mar 22 doi: 10.1016/j.trsl.2013.03.001. PMID: 23528997Free PMC Article
Leboulanger N, Garabédian EN
Orphanet J Rare Dis 2011 Dec 7;6:81. doi: 10.1186/1750-1172-6-81. PMID: 22151899Free PMC Article

Therapy

Ambartsumyan L
Aliment Pharmacol Ther 2024 Jul;60 Suppl 1:S77-S84. Epub 2024 Jun 25 doi: 10.1111/apt.17897. PMID: 38924569
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
Walsh J, McKenna Benoit M
Otolaryngol Clin North Am 2019 Oct;52(5):795-811. Epub 2019 Jul 25 doi: 10.1016/j.otc.2019.06.008. PMID: 31353141
Basurto D, Russo FM, Van der Veeken L, Van der Merwe J, Hooper S, Benachi A, De Bie F, Gomez O, Deprest J
Best Pract Res Clin Obstet Gynaecol 2019 Jul;58:93-106. Epub 2019 Jan 5 doi: 10.1016/j.bpobgyn.2018.12.010. PMID: 30772144
Becq A, Rahmi G, Perrod G, Cellier C
Gastrointest Endosc 2017 Nov;86(5):792-806. Epub 2017 May 26 doi: 10.1016/j.gie.2017.05.018. PMID: 28554655

Prognosis

Ludwig K, De Bartolo D, Salerno A, Ingravallo G, Cazzato G, Giacometti C, Dall'Igna P
Pathologica 2022 Feb;114(1):40-54. doi: 10.32074/1591-951X-553. PMID: 35212315Free PMC Article
Sobol SE
Curr Probl Pediatr Adolesc Health Care 2018 Mar;48(3):82-84. doi: 10.1016/j.cppeds.2018.01.007. PMID: 29571545
Leboulanger N, Garabédian EN
Orphanet J Rare Dis 2011 Dec 7;6:81. doi: 10.1186/1750-1172-6-81. PMID: 22151899Free PMC Article
Dogan DG, Dogan M, Aslan M, Menekse E, Yakinci C
Genet Couns 2010;21(4):359-62. PMID: 21290964
Levitt MA, Peña A
Orphanet J Rare Dis 2007 Jul 26;2:33. doi: 10.1186/1750-1172-2-33. PMID: 17651510Free PMC Article

Clinical prediction guides

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
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
Kapur RP, Ambartsumyan L, Smith C
Pediatr Dev Pathol 2020 Jan-Feb;23(1):60-71. Epub 2019 Nov 20 doi: 10.1177/1093526619889434. PMID: 31747832
Gosain A, Brinkman AS
Curr Opin Pediatr 2015 Jun;27(3):364-9. doi: 10.1097/MOP.0000000000000210. PMID: 25944307Free PMC Article
Levitt MA, Peña A
Orphanet J Rare Dis 2007 Jul 26;2:33. doi: 10.1186/1750-1172-2-33. PMID: 17651510Free PMC Article

Recent systematic reviews

Thwaites PA, Gibson PR, Burgell RE
J Gastroenterol Hepatol 2022 Sep;37(9):1693-1709. Epub 2022 Jul 20 doi: 10.1111/jgh.15927. PMID: 35750466Free PMC Article
Hansen CC, Søreide K
Medicine (Baltimore) 2018 Aug;97(35):e12154. doi: 10.1097/MD.0000000000012154. PMID: 30170459Free PMC Article
Neelapu BC, Kharbanda OP, Sardana HK, Balachandran R, Sardana V, Kapoor P, Gupta A, Vasamsetti S
Sleep Med Rev 2017 Feb;31:79-90. Epub 2016 Jan 30 doi: 10.1016/j.smrv.2016.01.007. PMID: 27039222
Caputo C, Wood E, Jabbour L
Birth Defects Res C Embryo Today 2016 Jun;108(2):174-80. Epub 2016 Jun 13 doi: 10.1002/bdrc.21129. PMID: 27297122
Malik AA; Shams-ul-Bari, Wani KA, Khaja AR
Saudi J Gastroenterol 2010 Jan-Mar;16(1):3-7. doi: 10.4103/1319-3767.58760. PMID: 20065566Free PMC Article

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