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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

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
Kyrklund K, Pakarinen MP, Taskinen S, Kivisaari R, Rintala RJ
J Neurosurg Spine 2016 Dec;25(6):782-789. Epub 2016 Jul 22 doi: 10.3171/2016.4.SPINE1641. PMID: 27448173
Cherry KJ, Gloviczki P, Stanson AW
J Vasc Surg 1996 Mar;23(3):490-7. doi: 10.1016/s0741-5214(96)80016-4. PMID: 8601893

Recent clinical studies

Etiology

Wang H, Lin W, Xie C, Yang W, Zhou J, Guo Z
Orphanet J Rare Dis 2023 Sep 12;18(1):288. doi: 10.1186/s13023-023-02857-5. PMID: 37700367Free 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
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
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
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

Diagnosis

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
Bouaoud J, Olivetto M, Testelin S, Dakpe S, Bettoni J, Devauchelle B
Int J Oral Maxillofac Surg 2020 Oct;49(10):1245-1253. Epub 2020 Jan 22 doi: 10.1016/j.ijom.2020.01.007. PMID: 31982235
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
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

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
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
Sulkowski JP, Nacion KM, Deans KJ, Minneci PC, Levitt MA, Mousa HM, Alpert SA, Teich S
J Pediatr Surg 2015 Oct;50(10):1644-7. Epub 2015 Mar 26 doi: 10.1016/j.jpedsurg.2015.03.043. PMID: 25858097
Kavalcova L, Skaba R, Kyncl M, Rouskova B, Prochazka A
J Pediatr Surg 2013 Aug;48(8):1806-9. doi: 10.1016/j.jpedsurg.2013.06.006. PMID: 23932626
Wijers CH, van Rooij IA, Bakker MK, Marcelis CL, Addor MC, Barisic I, Béres J, Bianca S, Bianchi F, Calzolari E, Greenlees R, Lelong N, Latos-Bielenska A, Dias CM, McDonnell R, Mullaney C, Nelen V, O'Mahony M, Queisser-Luft A, Rankin J, Zymak-Zakutnia N, de Blaauw I, Roeleveld N, de Walle HE
BJOG 2013 Aug;120(9):1066-74. Epub 2013 Apr 10 doi: 10.1111/1471-0528.12235. PMID: 23574029

Prognosis

Wang K, Yang L, Peng C, Pang W, Wang Z, Zhang D, Wu D, Chen Y
Pediatr Surg Int 2022 Sep;38(9):1283-1289. Epub 2022 Jul 3 doi: 10.1007/s00383-022-05159-2. PMID: 35780394
Destro F, Canazza L, Meroni M, Selvaggio G, Parazzini C, Valentini L, Riccipetitoni G
Eur J Pediatr Surg 2018 Dec;28(6):484-490. Epub 2017 Sep 25 doi: 10.1055/s-0037-1606844. PMID: 28946162
van den Hondel D, Sloots C, de Jong TH, Lequin M, Wijnen R
Eur J Pediatr Surg 2016 Feb;26(1):22-8. Epub 2015 Sep 21 doi: 10.1055/s-0035-1563673. PMID: 26394371
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
Bale PM
Perspect Pediatr Pathol 1984 Spring;8(1):9-56. PMID: 6366733

Clinical prediction guides

Wang H, Lin W, Xie C, Yang W, Zhou J, Guo Z
Orphanet J Rare Dis 2023 Sep 12;18(1):288. doi: 10.1186/s13023-023-02857-5. PMID: 37700367Free PMC Article
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
Khanna K, Sharma S, Pabalan N, Singh N, Gupta DK
Pediatr Surg Int 2018 Jan;34(1):9-20. Epub 2017 Nov 1 doi: 10.1007/s00383-017-4204-2. PMID: 29094201
van den Hondel D, Sloots C, de Jong TH, Lequin M, Wijnen R
Eur J Pediatr Surg 2016 Feb;26(1):22-8. Epub 2015 Sep 21 doi: 10.1055/s-0035-1563673. PMID: 26394371
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

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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