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Congenital abnormality

MedGen UID:
1254
Concept ID:
C0000768
Congenital Abnormality
Synonym: Congenital malformation
SNOMED CT: Fetal developmental abnormality (276654001); Congenital anomaly (276654001); Congenital abnormality (276654001); Foetal malformation (276654001); Congenital malformation (276654001); Fetal malformation (276654001); CM - Congenital malformation (276654001); Congenital deformity (276655000)

Definition

Any abnormality, anatomical or biochemical, evident at birth or during the neonatal period. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital abnormality

Professional guidelines

PubMed

Beresford C, Hall S, Smedley A, Mathad N, Waters R, Chakraborty A, Sparrow OC, Tsitouras V
Childs Nerv Syst 2020 Apr;36(4):729-741. Epub 2020 Jan 2 doi: 10.1007/s00381-019-04477-6. PMID: 31897633
Fiesco-Roa MO, Giri N, McReynolds LJ, Best AF, Alter BP
Blood Rev 2019 Sep;37:100589. Epub 2019 Jul 16 doi: 10.1016/j.blre.2019.100589. PMID: 31351673Free PMC Article
Ross AR, Hall NJ
J Pediatr Surg 2016 Aug;51(8):1385-9. Epub 2016 May 31 doi: 10.1016/j.jpedsurg.2016.05.008. PMID: 27312236

Recent clinical studies

Etiology

Katalinic A, Shulman LP, Strauss JF, Garcia-Velasco JA, van den Anker JN
Reprod Biomed Online 2022 Aug;45(2):365-373. Epub 2022 Apr 10 doi: 10.1016/j.rbmo.2022.03.032. PMID: 35644880
Boyd R, McMullen H, Beqaj H, Kalfa D
Pediatrics 2022 Jan 1;149(1) doi: 10.1542/peds.2021-052151. PMID: 34972224
Fiesco-Roa MO, Giri N, McReynolds LJ, Best AF, Alter BP
Blood Rev 2019 Sep;37:100589. Epub 2019 Jul 16 doi: 10.1016/j.blre.2019.100589. PMID: 31351673Free PMC Article
Bi WG, Nuyt AM, Weiler H, Leduc L, Santamaria C, Wei SQ
JAMA Pediatr 2018 Jul 1;172(7):635-645. doi: 10.1001/jamapediatrics.2018.0302. PMID: 29813153Free PMC Article
Moldenhauer JS, Adzick NS
Semin Fetal Neonatal Med 2017 Dec;22(6):360-366. Epub 2017 Oct 12 doi: 10.1016/j.siny.2017.08.004. PMID: 29031539

Diagnosis

Fiesco-Roa MO, Giri N, McReynolds LJ, Best AF, Alter BP
Blood Rev 2019 Sep;37:100589. Epub 2019 Jul 16 doi: 10.1016/j.blre.2019.100589. PMID: 31351673Free PMC Article
Moldenhauer JS, Adzick NS
Semin Fetal Neonatal Med 2017 Dec;22(6):360-366. Epub 2017 Oct 12 doi: 10.1016/j.siny.2017.08.004. PMID: 29031539
Malik AA; Shams-ul-Bari, Wani KA, Khaja AR
Saudi J Gastroenterol 2010 Jan-Mar;16(1):3-7. doi: 10.4103/1319-3767.58760. PMID: 20065566Free PMC Article
Martin JP, Connor PD, Charles K
Am Fam Physician 2000 Feb 15;61(4):1037-42, 1044. PMID: 10706156
Chitre VV, Premchandra DJ
Arch Dis Child 1997 Oct;77(4):359-63. doi: 10.1136/adc.77.4.359. PMID: 9389246Free PMC Article

Therapy

Boyd R, McMullen H, Beqaj H, Kalfa D
Pediatrics 2022 Jan 1;149(1) doi: 10.1542/peds.2021-052151. PMID: 34972224
Bi WG, Nuyt AM, Weiler H, Leduc L, Santamaria C, Wei SQ
JAMA Pediatr 2018 Jul 1;172(7):635-645. doi: 10.1001/jamapediatrics.2018.0302. PMID: 29813153Free PMC Article
Moldenhauer JS, Adzick NS
Semin Fetal Neonatal Med 2017 Dec;22(6):360-366. Epub 2017 Oct 12 doi: 10.1016/j.siny.2017.08.004. PMID: 29031539
Testini M, Girardi A, Isernia RM, De Palma A, Catalano G, Pezzolla A, Gurrado A
World J Emerg Surg 2017;12:23. Epub 2017 May 18 doi: 10.1186/s13017-017-0134-5. PMID: 28529538Free PMC Article
Lindman BR, Clavel MA, Mathieu P, Iung B, Lancellotti P, Otto CM, Pibarot P
Nat Rev Dis Primers 2016 Mar 3;2:16006. doi: 10.1038/nrdp.2016.6. PMID: 27188578Free PMC Article

Prognosis

Dwivedi T, Gosavi M
Indian J Pathol Microbiol 2019 Jan-Mar;62(1):149-152. doi: 10.4103/IJPM.IJPM_351_17. PMID: 30706883
Moldenhauer JS, Adzick NS
Semin Fetal Neonatal Med 2017 Dec;22(6):360-366. Epub 2017 Oct 12 doi: 10.1016/j.siny.2017.08.004. PMID: 29031539
Testini M, Girardi A, Isernia RM, De Palma A, Catalano G, Pezzolla A, Gurrado A
World J Emerg Surg 2017;12:23. Epub 2017 May 18 doi: 10.1186/s13017-017-0134-5. PMID: 28529538Free PMC Article
Toppari J, Kaleva M
Horm Res 1999 Dec;51(6):261-9. doi: 10.1159/000023412. PMID: 10640886
Girdwood RH
Drugs 1976;11(5):394-404. doi: 10.2165/00003495-197611050-00003. PMID: 782836

Clinical prediction guides

Gibson G, Lacek KA
Annu Rev Genet 2020 Nov 23;54:189-211. Epub 2020 Aug 31 doi: 10.1146/annurev-genet-022020-022327. PMID: 32867542
Bi WG, Nuyt AM, Weiler H, Leduc L, Santamaria C, Wei SQ
JAMA Pediatr 2018 Jul 1;172(7):635-645. doi: 10.1001/jamapediatrics.2018.0302. PMID: 29813153Free PMC Article
Alamo L, Gudinchet F, Meuli R
Pediatr Radiol 2015 Dec;45(13):1887-900. Epub 2015 Aug 9 doi: 10.1007/s00247-015-3418-5. PMID: 26255159
Smith GC
Curr Opin Obstet Gynecol 2006 Dec;18(6):625-30. doi: 10.1097/GCO.0b013e32801062ff. PMID: 17099333
Toppari J, Kaleva M
Horm Res 1999 Dec;51(6):261-9. doi: 10.1159/000023412. PMID: 10640886

Recent systematic reviews

Bi WG, Nuyt AM, Weiler H, Leduc L, Santamaria C, Wei SQ
JAMA Pediatr 2018 Jul 1;172(7):635-645. doi: 10.1001/jamapediatrics.2018.0302. PMID: 29813153Free PMC Article
Francois B, Lachaux A, Gottrand F, De Smet S
J Matern Fetal Neonatal Med 2018 May;31(10):1364-1368. Epub 2017 Apr 20 doi: 10.1080/14767058.2017.1315093. PMID: 28372492
Bannister M
Int J Pediatr Otorhinolaryngol 2017 Jan;92:99-102. Epub 2016 Oct 24 doi: 10.1016/j.ijporl.2016.10.021. PMID: 28012543
Wormald JC, Fishman JM, Juniat S, Tolley N, Birchall MA
J Laryngol Otol 2015 Aug;129(8):732-9. Epub 2015 Jun 24 doi: 10.1017/S0022215115001577. PMID: 26104952
Malik AA; Shams-ul-Bari, Wani KA, Khaja AR
Saudi J Gastroenterol 2010 Jan-Mar;16(1):3-7. doi: 10.4103/1319-3767.58760. PMID: 20065566Free PMC Article

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