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Pyloric atresia

MedGen UID:
75601
•Concept ID:
C0266159
•
Congenital Abnormality
Synonym: Pyloric Atresia
SNOMED CT: Pyloric atresia (27729002)
 
Monarch Initiative: MONDO:0009944
OMIM®: 265950

Clinical features

From HPO
Congenital pyloric atresia
MedGen UID:
870867
•Concept ID:
C4025327
•
Congenital Abnormality
Congenital atresia of the pylorus.
See: Feature record | Search on this feature
Polyhydramnios
MedGen UID:
6936
•Concept ID:
C0020224
•
Pathologic Function
The presence of excess amniotic fluid in the uterus during pregnancy.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Genotype-phenotype correlations on epidermolysis bullosa with congenital absence of skin: A comprehensive review.
Mariath LM, Santin JT, Frantz JA, Doriqui MJR, Schuler-Faccini L, Kiszewski AE
Clin Genet 2021 Jan;99(1):29-41. Epub 2020 Jun 29 doi: 10.1111/cge.13792. PMID: 32506467
Neonatal gastric outlet obstruction by isolated pyloric atresia, an often forgotten diagnosis.
Mboyo A, Clermidi P, Podevin G, Patkowski D, Baglaj M, Gerus S, Lalioui A, Napoli-Cocci Sd, Robert M
Acta Chir Belg 2016 Apr;116(2):89-95. doi: 10.1080/00015458.2016.1156930. PMID: 27385295
DNA-based prenatal diagnosis of plectin-deficient epidermolysis bullosa simplex associated with pyloric atresia.
Nakamura H, Natsuga K, Nishie W, McMillan JR, Nakamura H, Sawamura D, Akiyama M, Shimizu H
Int J Dermatol 2011 Apr;50(4):439-42. doi: 10.1111/j.1365-4632.2010.04771.x. PMID: 21413955

Recent clinical studies

Etiology

Mutation update: The spectra of PLEC sequence variants and related plectinopathies.
Vahidnezhad H, Youssefian L, Harvey N, Tavasoli AR, Saeidian AH, Sotoudeh S, Varghaei A, Mahmoudi H, Mansouri P, Mozafari N, Zargari O, Zeinali S, Uitto J
Hum Mutat 2022 Dec;43(12):1706-1731. Epub 2022 Jul 29 doi: 10.1002/humu.24434. PMID: 35815343Free PMC Article
Muscle-Related Plectinopathies.
Zrelski MM, Kustermann M, Winter L
Cells 2021 Sep 19;10(9) doi: 10.3390/cells10092480. PMID: 34572129Free PMC Article
Congenital pyloric atresia, presentation, management, and outcome: a report of 20 cases.
Al-Salem AH, Abdulla MR, Kothari MR, Naga MI
J Pediatr Surg 2014 Jul;49(7):1078-82. Epub 2013 Oct 17 doi: 10.1016/j.jpedsurg.2013.10.009. PMID: 24952792
Congenital pyloric atresia and associated anomalies.
Al-Salem AH
Pediatr Surg Int 2007 Jun;23(6):559-63. Epub 2007 Mar 28 doi: 10.1007/s00383-007-1903-0. PMID: 17390140
Pyloric atresia: 15-year review from a single institution.
Ilce Z, Erdogan E, Kara C, Celayir S, Sarimurat N, Senyüz OF, Yeker D
J Pediatr Surg 2003 Nov;38(11):1581-4. doi: 10.1016/s0022-3468(03)00565-7. PMID: 14614704

Diagnosis

Imaging Features of Neonatal Bowel Obstruction.
Gerrie SK, Navarro OM
Radiographics 2023 Aug;43(8):e230035. doi: 10.1148/rg.230035. PMID: 37471246
Ethics Roundtable: How Much is Too Much?
Theodoro MF, Hays J, DiBartolomeo M, Carter B
Am J Hosp Palliat Care 2023 Jan;40(1):106-110. Epub 2022 Apr 24 doi: 10.1177/10499091221088829. PMID: 35466683
Epidermolysis bullosa with congenital absence of skin: Review of the literature.
Martinez-Moreno A, Ocampo-Candiani J, Alba-Rojas E
Pediatr Dermatol 2020 Sep;37(5):821-826. Epub 2020 Jul 20 doi: 10.1111/pde.14245. PMID: 32686866
Pyloric atresia--three cases and review of literature.
Parelkar SV, Kapadnis SP, Sanghvi BV, Joshi PB, Mundada D, Shetty S, Oak SN
Afr J Paediatr Surg 2014 Oct-Dec;11(4):362-5. doi: 10.4103/0189-6725.143178. PMID: 25323191
Congenital pyloric atresia, presentation, management, and outcome: a report of 20 cases.
Al-Salem AH, Abdulla MR, Kothari MR, Naga MI
J Pediatr Surg 2014 Jul;49(7):1078-82. Epub 2013 Oct 17 doi: 10.1016/j.jpedsurg.2013.10.009. PMID: 24952792

Therapy

Advanced minimal access surgery in infants weighing less than 3kg: A single center experience.
Wall JK, Sinclair TJ, Kethman W, Williams C, Albanese C, Sylvester KG, Bruzoni M
J Pediatr Surg 2018 Mar;53(3):503-507. Epub 2017 May 11 doi: 10.1016/j.jpedsurg.2017.05.006. PMID: 28549685
First successful preimplantation genetic diagnosis of epidermolysis bullosa with pyloric atresia: case study of a novel c.4505-4508insACTC mutation.
Ozge A, Safak H, Ebru H, Evrim U, Bilge SE, Leyla O, Kemal KA, Volkan B
J Assist Reprod Genet 2012 Apr;29(4):347-52. Epub 2012 Feb 22 doi: 10.1007/s10815-012-9728-8. PMID: 22354727Free PMC Article
Colonic atresia: surgical management and outcome.
Karnak I, Ciftci AO, Senocak ME, Tanyel FC, Büyükpamukçu N
Pediatr Surg Int 2001 Nov;17(8):631-5. doi: 10.1007/s003830100009. PMID: 11727055
Congenital pyloric atresia: a report of three cases.
Kadowaki H, Takeuchi S, Nakahira M, Yamada C, Tamate S, Shiokawa C
Am J Gastroenterol 1981 Nov;76(5):449-52. PMID: 7337134

Prognosis

Epidermolysis bullosa with congenital absence of skin: Review of the literature.
Martinez-Moreno A, Ocampo-Candiani J, Alba-Rojas E
Pediatr Dermatol 2020 Sep;37(5):821-826. Epub 2020 Jul 20 doi: 10.1111/pde.14245. PMID: 32686866
Pyloric atresia in the neonate.
Knouff S, Klein A, Kaminski M
Neonatal Netw 2014 Nov-Dec;33(6):329-35. doi: 10.1891/0730-0832.33.6.329. PMID: 25391592
Pyloric atresia--three cases and review of literature.
Parelkar SV, Kapadnis SP, Sanghvi BV, Joshi PB, Mundada D, Shetty S, Oak SN
Afr J Paediatr Surg 2014 Oct-Dec;11(4):362-5. doi: 10.4103/0189-6725.143178. PMID: 25323191
Congenital pyloric atresia, presentation, management, and outcome: a report of 20 cases.
Al-Salem AH, Abdulla MR, Kothari MR, Naga MI
J Pediatr Surg 2014 Jul;49(7):1078-82. Epub 2013 Oct 17 doi: 10.1016/j.jpedsurg.2013.10.009. PMID: 24952792
Congenital pyloric atresia and associated anomalies.
Al-Salem AH
Pediatr Surg Int 2007 Jun;23(6):559-63. Epub 2007 Mar 28 doi: 10.1007/s00383-007-1903-0. PMID: 17390140

Clinical prediction guides

Clinical outcomes and molecular profile of patients with Carmi syndrome: A systematic review and evidence quality assessment.
Mylonas KS, Hayes M, Ko LN, Griggs CL, Kroshinsky D, Masiakos PT
J Pediatr Surg 2019 Jul;54(7):1351-1358. Epub 2018 May 29 doi: 10.1016/j.jpedsurg.2018.05.019. PMID: 29935895
Management of digestive lesions associated to congenital epidermolysis bullosa.
Chahed J, Mekki M, Ksia A, Kechiche N, Hidouri S, Youssef TM, Sahnoun L, Krichene I, Belghith M, Nouri A
Afr J Paediatr Surg 2015 Oct-Dec;12(4):221-6. doi: 10.4103/0189-6725.172544. PMID: 26712284Free PMC Article
Pyloric atresia: A report of ten patients.
Ksia A, Zitouni H, Zrig A, Laamiri R, Chioukh F, Ayari E, Sahnoun L, Maazoun K, Krichene I, Mekki M, Belghith M, Nouri A
Afr J Paediatr Surg 2013 Apr-Jun;10(2):192-4. doi: 10.4103/0189-6725.115054. PMID: 23860076
The many faces of plectin and plectinopathies: pathology and mechanisms.
Winter L, Wiche G
Acta Neuropathol 2013 Jan;125(1):77-93. Epub 2012 Aug 3 doi: 10.1007/s00401-012-1026-0. PMID: 22864774
Myasthenic syndrome caused by plectinopathy.
Selcen D, Juel VC, Hobson-Webb LD, Smith EC, Stickler DE, Bite AV, Ohno K, Engel AG
Neurology 2011 Jan 25;76(4):327-36. doi: 10.1212/WNL.0b013e31820882bd. PMID: 21263134Free PMC Article

Recent systematic reviews

(New) antenatal ultrasound signs of fetal junctional epidermolysis bullosa: A case report and systematic review of literature.
Tosto V, Herrero B, Illescas T, De la Calle Fernandez-Miranda M, Moreno-Sanz B, de Lucas R, Bartha JL, Antolin E
Eur J Obstet Gynecol Reprod Biol 2023 Nov;290:43-50. Epub 2023 Aug 24 doi: 10.1016/j.ejogrb.2023.08.379. PMID: 37717401
Clinical outcomes and molecular profile of patients with Carmi syndrome: A systematic review and evidence quality assessment.
Mylonas KS, Hayes M, Ko LN, Griggs CL, Kroshinsky D, Masiakos PT
J Pediatr Surg 2019 Jul;54(7):1351-1358. Epub 2018 May 29 doi: 10.1016/j.jpedsurg.2018.05.019. PMID: 29935895

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