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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

Kancherla V, Sundar M, Tandaki L, Lux A, Bakker MK, Bergman JE, Bermejo-Sánchez E, Canfield MA, Dastgiri S, Feldkamp ML, Gatt M, Groisman B, Hurtado-Villa P, Kallen K, Landau D, Lelong N, Lopez-Camelo J, Martinez LE, Mastroiacovo P, Morgan M, Mutchinick OM, Nance AE, Nembhard WN, Pierini A, Sipek A, Stallings EB, Szabova E, Tagliabue G, Wertelecki W, Zarante I, Rissmann A
Birth Defects Res 2023 Feb 1;115(3):390-404. Epub 2022 Nov 19 doi: 10.1002/bdr2.2129. PMID: 36401554Free PMC Article
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
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
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
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

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
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
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
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

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
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

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
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, 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
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
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

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
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
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
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

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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