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Syndromic anorectal malformation

MedGen UID:
1842922
Concept ID:
C5681738
Congenital Abnormality
Orphanet: ORPHA117573

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Syndromic anorectal malformation

Professional guidelines

PubMed

Metry D, Copp HL, Rialon KL, Iacobas I, Baselga E, Dobyns WB, Drolet B, Frieden IJ, Garzon M, Haggstrom A, Hanson D, Hollenbach L, Keppler-Noreuil KM, Maheshwari M, Siegel DH, Waseem S, Dias M
J Pediatr 2024 Sep;272:114101. Epub 2024 May 15 doi: 10.1016/j.jpeds.2024.114101. PMID: 38759778
Marcelis C, Dworschak G, de Blaauw I, van Rooij IALM
Eur J Pediatr Surg 2021 Dec;31(6):482-491. Epub 2021 Dec 15 doi: 10.1055/s-0041-1740338. PMID: 34911130
van den Hondel D, Wijers CH, van Bever Y, de Klein A, Marcelis CL, de Blaauw I, Sloots CE, IJsselstijn H
Eur J Pediatr 2016 Apr;175(4):489-97. Epub 2015 Oct 24 doi: 10.1007/s00431-015-2655-9. PMID: 26498647Free PMC Article

Recent clinical studies

Etiology

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
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
Dworschak GC, van Rooij IALM, Reutter HM
Genes (Basel) 2021 Aug 24;12(9) doi: 10.3390/genes12091298. PMID: 34573284Free PMC Article
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
Hertzler DA 2nd, DePowell JJ, Stevenson CB, Mangano FT
Neurosurg Focus 2010 Jul;29(1):E1. doi: 10.3171/2010.3.FOCUS1079. PMID: 20593997

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
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
Rodríguez Bandera AI, Sebaratnam DF, Wargon O, Wong LF
J Am Acad Dermatol 2021 Dec;85(6):1379-1392. Epub 2021 Aug 19 doi: 10.1016/j.jaad.2021.08.019. PMID: 34419524
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
Vargas MG, Miguel-Sardaneta ML, Rosas-Téllez M, Pereira-Reyes D, Justo-Janeiro JM
Pediatr Ann 2018 May 1;47(5):e220-e225. doi: 10.3928/19382359-20180425-02. PMID: 29750290

Therapy

Breuking EA, van Varsseveld OC, Harms M, Tytgat SHAJ, Hulscher JBF, Ruiterkamp J
J Pediatr Surg 2023 Aug;58(8):1534-1542. Epub 2022 Oct 24 doi: 10.1016/j.jpedsurg.2022.10.045. PMID: 36404183
Maquera-Afaray J, Luna-Vilchez M, Portillo-Alvarez D, López JW
Turk J Pediatr 2022;64(3):580-584. doi: 10.24953/turkjped.2021.796. PMID: 35899573
Duci M, Fascetti Leon F, Castagnetti M, Benetti E, Meneghesso D, Gaspari T, Gamba P, De Corti F
J Pediatr Urol 2022 Dec;18(6):799.e1-799.e5. Epub 2022 Jun 24 doi: 10.1016/j.jpurol.2022.06.021. PMID: 35842394
Peña A, De La Torre L, Belkind-Gerson J, Lovell M, Ketzer J, Bealer J, Bischoff A
J Pediatr Surg 2021 Feb;56(2):424-428. Epub 2020 Oct 31 doi: 10.1016/j.jpedsurg.2020.10.027. PMID: 33199058
Wankhede AG, Dongre AP, Sariya DR
J Forensic Leg Med 2007 Jul;14(5):289-92. Epub 2006 Aug 17 doi: 10.1016/j.jcfm.2006.05.002. PMID: 16914360

Prognosis

Siegel DH
Am J Med Genet C Semin Med Genet 2018 Dec;178(4):407-413. doi: 10.1002/ajmg.c.31659. PMID: 30580483
Muise ED, Cowles RA
Semin Pediatr Surg 2015 Apr;24(2):65-8. Epub 2015 Jan 9 doi: 10.1053/j.sempedsurg.2015.01.002. PMID: 25770365
Le Caignec C, Winer N, Boceno M, Delnatte C, Podevin G, Liet JM, Quere MP, Joubert M, Rival JM
Prenat Diagn 2003 Dec 15;23(12):981-4. doi: 10.1002/pd.742. PMID: 14663834
Bianca S, Ettore G
Paediatr Perinat Epidemiol 2000 Oct;14(4):372. doi: 10.1046/j.1365-3016.2000.00282.x. PMID: 11101025
Shoshany G, Gottfied E, Bar-Maor JA
J Perinatol 1996 May-Jun;16(3 Pt 1):224-6. PMID: 8817437

Clinical prediction guides

Pang W, Chen Y, Wang K, Zhang D, Qi X, Wu D
Pediatr Surg Int 2023 Jan 6;39(1):72. doi: 10.1007/s00383-022-05345-2. PMID: 36607405
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
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
Girard C, Bigorre M, Guillot B, Bessis D
Arch Dermatol 2006 Jul;142(7):884-8. doi: 10.1001/archderm.142.7.884. PMID: 16847205
Le Caignec C, Winer N, Boceno M, Delnatte C, Podevin G, Liet JM, Quere MP, Joubert M, Rival JM
Prenat Diagn 2003 Dec 15;23(12):981-4. doi: 10.1002/pd.742. PMID: 14663834

Recent systematic reviews

Breuking EA, van Varsseveld OC, Harms M, Tytgat SHAJ, Hulscher JBF, Ruiterkamp J
J Pediatr Surg 2023 Aug;58(8):1534-1542. Epub 2022 Oct 24 doi: 10.1016/j.jpedsurg.2022.10.045. PMID: 36404183
Radu-Iulian S, Adelaida A, Dan-Alexandru I, Monica I, Dragos S, Florentina TL, Cătălin C
Medicina (Kaunas) 2020 Nov 27;56(12) doi: 10.3390/medicina56120650. PMID: 33260808Free PMC Article
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
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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