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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
Stamou MI, Georgopoulos NA
Metabolism 2018 Sep;86:124-134. Epub 2017 Nov 3 doi: 10.1016/j.metabol.2017.10.012. PMID: 29108899Free PMC Article
Klein DA, Poth MA
Am Fam Physician 2013 Jun 1;87(11):781-8. PMID: 23939500

Recent clinical studies

Etiology

Eiset SE, Schraw J, Sørensen GV, Gregersen PA, Rasmussen SA, Ramlau-Hansen CH, Lupo PJ, Hasle H
JAMA Netw Open 2024 Mar 4;7(3):e240365. doi: 10.1001/jamanetworkopen.2024.0365. PMID: 38488796Free PMC Article
De Keersmaecker B, Jansen K, Aertsen M, Naulaers G, De Catte L
Am J Obstet Gynecol 2024 Apr;230(4):456.e1-456.e9. Epub 2023 Oct 8 doi: 10.1016/j.ajog.2023.10.007. PMID: 37816486
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
Yin W, Bian Z
Oral Dis 2016 May;22(4):265-73. Epub 2016 Jan 13 doi: 10.1111/odi.12400. PMID: 26600092

Diagnosis

De Keersmaecker B, Jansen K, Aertsen M, Naulaers G, De Catte L
Am J Obstet Gynecol 2024 Apr;230(4):456.e1-456.e9. Epub 2023 Oct 8 doi: 10.1016/j.ajog.2023.10.007. PMID: 37816486
Tsai P, Shinar S
Prenat Diagn 2023 Nov;43(12):1527-1535. Epub 2023 Oct 4 doi: 10.1002/pd.6447. PMID: 37794643
Chawla RK, Madan A, Chawla A, Arora HN, Chawla K
Indian J Chest Dis Allied Sci 2015 Oct-Dec;57(4):251-3. PMID: 27164736
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
Robson WL, Leung AK, Rogers RC
Adv Pediatr 1995;42:575-92. PMID: 8540439

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
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
Srinivasan AK, Palmer LS, Palmer JS
ScientificWorldJournal 2011;11:2559-64. Epub 2011 Dec 29 doi: 10.1100/2011/238519. PMID: 22235186Free PMC Article
Wiygul J, Palmer LS
ScientificWorldJournal 2011 Jul 28;11:1462-9. doi: 10.1100/tsw.2011.135. PMID: 21805015Free PMC Article
Ozkan O, Erman Akar M, Ozkan O, Doğan NU
Ann Plast Surg 2011 Jun;66(6):673-8. doi: 10.1097/SAP.0b013e3181edd50c. PMID: 21372677

Prognosis

Akyol Onder EN, Yilmaz O, Taneli C, Ertan P
Pediatr Int 2023 Jan;65(1):e15488. doi: 10.1111/ped.15488. PMID: 36705322
Mohammed H, West K, Bewick J, Wickstead M
J Laryngol Otol 2016 Mar;130(3):314-7. Epub 2016 Jan 7 doi: 10.1017/S0022215115003515. PMID: 26740311
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

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
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):396-402. Epub 2014 Sep 11 doi: 10.1016/j.jpag.2014.09.001. PMID: 25438708
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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