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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

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
Winters M, Clar DT, Van Fossen K
Am Surg 2023 Jun;89(6):2844-2846. Epub 2021 Dec 7 doi: 10.1177/00031348211060440. PMID: 34873961
Committee on Adolescent Health Care
Obstet Gynecol 2018 Jan;131(1):e35-e42. doi: 10.1097/AOG.0000000000002458. PMID: 29266078
Lynch SA, Wang Y, Strachan T, Burn J, Lindsay S
J Med Genet 2000 Aug;37(8):561-6. doi: 10.1136/jmg.37.8.561. PMID: 10922380Free PMC Article
Gupta JK, Lilford RJ
Prenat Diagn 1995 Apr;15(4):301-12. doi: 10.1002/pd.1970150402. PMID: 7617572

Diagnosis

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
Mathur S, Mathur A, Dubey T, Jain S, Mathur S, Agarwal H, Kulshrestha M, Jangid R, Ram C
J Assoc Physicians India 2013 Jun;61(6):418-20. PMID: 24640213
Robson WL, Leung AK, Rogers RC
Adv Pediatr 1995;42:575-92. PMID: 8540439

Therapy

Winters M, Clar DT, Van Fossen K
Am Surg 2023 Jun;89(6):2844-2846. Epub 2021 Dec 7 doi: 10.1177/00031348211060440. PMID: 34873961
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
Mathur S, Mathur A, Dubey T, Jain S, Mathur S, Agarwal H, Kulshrestha M, Jangid R, Ram C
J Assoc Physicians India 2013 Jun;61(6):418-20. PMID: 24640213
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

Prognosis

Darouich S, Masmoudi A
N Engl J Med 2021 Mar 4;384(9):e27. doi: 10.1056/NEJMicm2027782. PMID: 33657297
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
Kasat LS, Borwankar SS, Naregal A, Jain M, Sakalkale RP, Bajaj R
Pediatr Surg Int 1999 Jul;15(5-6):415-6. doi: 10.1007/s003830050618. PMID: 10415305
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

Piemonti L, Simonetto C, Bovino A, Pinto A, Garzon S, Grisolia G, Raffaelli R
J Clin Ultrasound 2024 Sep;52(7):949-955. Epub 2024 May 20 doi: 10.1002/jcu.23718. PMID: 38767265
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
Diez MTS, Lemaitre S, Gonzalez-Valdivia H, Gonzalez-Candial MG
Ophthalmic Plast Reconstr Surg 2020 Mar/Apr;36(2):e30-e32. doi: 10.1097/IOP.0000000000001535. PMID: 31789790
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

Recent systematic reviews

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
Siffredi V, Anderson V, Leventer RJ, Spencer-Smith MM
Dev Neuropsychol 2013;38(1):36-57. doi: 10.1080/87565641.2012.721421. PMID: 23311314

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