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Agenesis

MedGen UID:
7816
Concept ID:
C0000846
Congenital Abnormality
Synonym: agenesis
SNOMED CT: Agenesis (782173000)

Definition

A congenital abnormality resulting in the absence of an anatomical structure. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAgenesis

Professional guidelines

PubMed

Passos IMPE, Britto RL
Taiwan J Obstet Gynecol 2020 Mar;59(2):183-188. doi: 10.1016/j.tjog.2020.01.003. PMID: 32127135
Al-Ani AH, Antoun JS, Thomson WM, Merriman TR, Farella M
Biomed Res Int 2017;2017:9378325. Epub 2017 Mar 19 doi: 10.1155/2017/9378325. PMID: 28401166Free PMC Article
Klein DA, Poth MA
Am Fam Physician 2013 Jun 1;87(11):781-8. PMID: 23939500

Recent clinical studies

Etiology

Chaudhary RK, Groskreutz D, Gupta E, Baghdadi Y, Smith S, Sapire J
Surg Radiol Anat 2023 Jun;45(6):777-786. Epub 2023 Mar 11 doi: 10.1007/s00276-023-03117-8. PMID: 36899092
Kanchanasevee C, Chantarangsu S, Pittayapat P, Porntaveetus T
BMC Oral Health 2023 Jan 23;23(1):37. doi: 10.1186/s12903-023-02753-1. PMID: 36691053Free PMC Article
Ercal P, Taysi AE
Niger J Clin Pract 2020 Mar;23(3):392-397. doi: 10.4103/njcp.njcp_520_19. PMID: 32134041
Yin W, Bian Z
Oral Dis 2016 May;22(4):265-73. Epub 2016 Jan 13 doi: 10.1111/odi.12400. PMID: 26600092
Carter K, Worthington S
J Dent Res 2015 Jul;94(7):886-94. Epub 2015 Apr 16 doi: 10.1177/0022034515581644. PMID: 25883107

Diagnosis

Tsai P, Shinar S
Prenat Diagn 2023 Nov;43(12):1527-1535. Epub 2023 Oct 4 doi: 10.1002/pd.6447. PMID: 37794643
Hobzová Pavlína, Chubanovová Nikoleta, Nováčková Marta
Ceska Gynekol 2022;87(5):350-355. doi: 10.48095/cccg2022350. PMID: 36316217
Mandel AM
Handb Clin Neurol 2020;171:291-311. doi: 10.1016/B978-0-444-64239-4.00015-1. PMID: 32736756
Obstet Gynecol 2018 Jan;131(1):196-197. doi: 10.1097/AOG.0000000000002452. PMID: 29266072
Bhat S, Acharya UR, Adeli H, Bairy GM, Adeli A
Rev Neurosci 2014;25(6):841-50. doi: 10.1515/revneuro-2014-0056. PMID: 25222596

Therapy

Herlin MK, Petersen MB, Brännström M
Orphanet J Rare Dis 2020 Aug 20;15(1):214. doi: 10.1186/s13023-020-01491-9. PMID: 32819397Free PMC Article
Ghaeminia H, Nienhuijs ME, Toedtling V, Perry J, Tummers M, Hoppenreijs TJ, Van der Sanden WJ, Mettes TG
Cochrane Database Syst Rev 2020 May 4;5(5):CD003879. doi: 10.1002/14651858.CD003879.pub5. PMID: 32368796Free PMC Article
Mei W, Cao F, Li F
BMC Gastroenterol 2020 Apr 6;20(1):94. doi: 10.1186/s12876-020-01245-8. PMID: 32252649Free PMC Article
Cochat P, Febvey O, Bacchetta J, Bérard E, Cabrera N, Dubourg L
Pediatr Nephrol 2019 Nov;34(11):2311-2323. Epub 2018 Oct 1 doi: 10.1007/s00467-018-4085-1. PMID: 30276534
Wiygul J, Palmer LS
ScientificWorldJournal 2011 Jul 28;11:1462-9. doi: 10.1100/tsw.2011.135. PMID: 21805015Free PMC Article

Prognosis

Smith MM, Huang A, Labbé M, Lubov J, Nguyen LHP
Int J Pediatr Otorhinolaryngol 2017 Oct;101:57-64. Epub 2017 Jul 24 doi: 10.1016/j.ijporl.2017.07.028. PMID: 28964311
Shapiro E
Clin Perinatol 2014 Sep;41(3):679-94. Epub 2014 Jul 18 doi: 10.1016/j.clp.2014.05.014. PMID: 25155735
Reichman DE, Laufer MR
Best Pract Res Clin Obstet Gynaecol 2010 Apr;24(2):193-208. Epub 2009 Nov 7 doi: 10.1016/j.bpobgyn.2009.09.006. PMID: 19897423
Sztriha L, Al-Gazali L, Várady E, Nork M, Varughese M
Pediatr Neurol 1998 Apr;18(4):362-5. doi: 10.1016/s0887-8994(97)00213-0. PMID: 9588537
Duncan PA, Shapiro LR, Klein RM
Am J Med Genet 1991 Nov 1;41(2):153-61. doi: 10.1002/ajmg.1320410203. PMID: 1785625

Clinical prediction guides

Piron S, Tridetti J, Marchetta S, Lancellotti P
Acta Cardiol 2023 Jun;78(4):459-462. Epub 2021 Oct 21 doi: 10.1080/00015385.2021.1991666. PMID: 34670482
Letra A
Curr Osteoporos Rep 2022 Dec;20(6):389-397. Epub 2022 Nov 15 doi: 10.1007/s11914-022-00761-8. PMID: 36378475Free PMC Article
Vanlerberghe C, Boutry N, Petit F
Clin Genet 2018 Jul;94(1):43-53. Epub 2018 Apr 11 doi: 10.1111/cge.13209. PMID: 29322497
D'Antonio F, Pagani G, Familiari A, Khalil A, Sagies TL, Malinger G, Leibovitz Z, Garel C, Moutard ML, Pilu G, Bhide A, Acharya G, Leombroni M, Manzoli L, Papageorghiou A, Prefumo F
Pediatrics 2016 Sep;138(3) doi: 10.1542/peds.2016-0445. PMID: 27581855
Yin W, Bian Z
Oral Dis 2016 May;22(4):265-73. Epub 2016 Jan 13 doi: 10.1111/odi.12400. PMID: 26600092

Recent systematic reviews

Chaudhary RK, Groskreutz D, Gupta E, Baghdadi Y, Smith S, Sapire J
Surg Radiol Anat 2023 Jun;45(6):777-786. Epub 2023 Mar 11 doi: 10.1007/s00276-023-03117-8. PMID: 36899092
Tadros S, Ben-Dov T, Catháin ÉÓ, Anglin C, April MM
Int J Pediatr Otorhinolaryngol 2022 May;156:111063. Epub 2022 Feb 26 doi: 10.1016/j.ijporl.2022.111063. PMID: 35248905
Medina MCG, Bastos RTDRM, Mecenas P, Pinheiro JJV, Normando D
J Appl Oral Sci 2021;29:e20200955. Epub 2021 Aug 9 doi: 10.1590/1678-7757-2020-0955. PMID: 34378652Free PMC Article
Ghaeminia H, Nienhuijs ME, Toedtling V, Perry J, Tummers M, Hoppenreijs TJ, Van der Sanden WJ, Mettes TG
Cochrane Database Syst Rev 2020 May 4;5(5):CD003879. doi: 10.1002/14651858.CD003879.pub5. PMID: 32368796Free PMC Article
Dietrich JE, Millar DM, Quint EH
J Pediatr Adolesc Gynecol 2014 Dec;27(6):386-95. Epub 2014 Jul 17 doi: 10.1016/j.jpag.2014.07.001. PMID: 25438707

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