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Congenital, Hereditary, and Neonatal Diseases and Abnormalities

MedGen UID:: 14319
•Concept ID:: C0027612
•: Congenital Abnormality; Disease or Syndrome

Definition

Diseases existing at birth and often before birth, or that develop during the first month of life (INFANT, NEWBORN, DISEASES), regardless of causation. Of these diseases, those characterized by structural deformities are termed CONGENITAL ABNORMALITIES. [from MeSH]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVCongenital, Hereditary, and Neonatal Diseases and Abnormalities

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Professional guidelines

PubMed

Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases.

Testard Q, Vanhoye X, Yauy K, Naud ME, Vieville G, Rousseau F, Dauriat B, Marquet V, Bourthoumieu S, Geneviève D, Gatinois V, Wells C, Willems M, Coubes C, Pinson L, Dard R, Tessier A, Hervé B, Vialard F, Harzallah I, Touraine R, Cogné B, Deb W, Besnard T, Pichon O, Laudier B, Mesnard L, Doreille A, Busa T, Missirian C, Satre V, Coutton C, Celse T, Harbuz R, Raymond L, Taly JF, Thevenon J
J Med Genet 2022 Dec;59(12):1234-1240. Epub 2022 Sep 22 doi: 10.1136/jmg-2022-108439. PMID: 36137615

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Recent clinical studies

Etiology

Sexual and Psychosocial Outcome After Neovaginoplasty Using Interceed in Females with Mayer-Rokitansky-Küster-Hauser Syndrome: A Case-Control Study.

Jha S, Singh S
J Obstet Gynaecol Can 2022 Aug;44(8):926-930. Epub 2022 Apr 27 doi: 10.1016/j.jogc.2022.03.018. PMID: 35489673

Systematic evaluation of olfaction in patients with hereditary cystic kidney diseases/renal ciliopathies.

Dahmer-Heath M, Schriever V, Kollmann S, Schleithoff C, Titieni A, Cetiner M, Patzer L, Tönshoff B, Hansen M, Pennekamp P, Gerß J, Konrad M, König J
J Med Genet 2021 Sep;58(9):629-636. Epub 2020 Sep 11 doi: 10.1136/jmedgenet-2020-107192. PMID: 32917769

Haploinsufficiency of the NF1 gene is associated with protection against diabetes.

Kallionpää RA, Peltonen S, Leppävirta J, Pöyhönen M, Auranen K, Järveläinen H, Peltonen J
J Med Genet 2021 Jun;58(6):378-384. Epub 2020 Jun 22 doi: 10.1136/jmedgenet-2020-107062. PMID: 32571896 Free PMC Article

Delivering hydrocephalic fetuses.

Strong C
Bioethics 1991 Jan;5(1):1-22. doi: 10.1111/j.1467-8519.1991.tb00141.x. PMID: 11650945

Practical ethics in pediatrics.

Coulter DJ, Murray TH, Cerreto MC
Curr Probl Pediatr 1988 Mar;18(3):143-95. PMID: 11644503

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Diagnosis

Axenfeld-Rieger syndrome: more than meets the eye.

Reis LM, Maheshwari M, Capasso J, Atilla H, Dudakova L, Thompson S, Zitano L, Lay-Son G, Lowry RB, Black J, Lee J, Shue A, Kremlikova Pourova R, Vaneckova M, Skalicka P, Jedlickova J, Trkova M, Williams B, Richard G, Bachman K, Seeley AH, Costakos D, Glaser TM, Levin AV, Liskova P, Murray JC, Semina EV
J Med Genet 2023 Apr;60(4):368-379. Epub 2022 Jul 26 doi: 10.1136/jmg-2022-108646. PMID: 35882526 Free PMC Article

Sexual and Psychosocial Outcome After Neovaginoplasty Using Interceed in Females with Mayer-Rokitansky-Küster-Hauser Syndrome: A Case-Control Study.

Jha S, Singh S
J Obstet Gynaecol Can 2022 Aug;44(8):926-930. Epub 2022 Apr 27 doi: 10.1016/j.jogc.2022.03.018. PMID: 35489673

Systematic evaluation of olfaction in patients with hereditary cystic kidney diseases/renal ciliopathies.

Haploinsufficiency of the NF1 gene is associated with protection against diabetes.

Medical ethics.

Veatch RM
JAMA 1984 Oct 26;252(16):2296-300. PMID: 11644164

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Therapy

Successful Outcome in an Adult Patient with Influenza-associated Hemorrhagic Shock and Encephalopathy Syndrome.

Komori Y, Uchida N, Soejima N, Fujita Y, Matsumoto H
Intern Med 2020 Sep 15;59(18):2321-2326. Epub 2020 Jun 9 doi: 10.2169/internalmedicine.4312-19. PMID: 32522919 Free PMC Article

Attitudes towards abortion in the Danish population.

Norup M
Bioethics 1997 Oct;11(5):439-49. doi: 10.1111/1467-8519.00083. PMID: 11655122

Was the UK collaborative ECMO trial ethical?

Lantos JD
Paediatr Perinat Epidemiol 1997 Jul;11(3):264-8. doi: 10.1111/j.1365-3016.1997.tb00003.x. PMID: 11644992

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Prognosis

MRI findings at neurological onset predict neurological prognosis in hemorrhagic shock and encephalopathy syndrome.

Kuki I, Inoue T, Nukui M, Okazaki S, Kawawaki H, Ishikawa J, Amo K, Togawa M, Ujiro A, Rinka H, Shiomi M
J Neurol Sci 2021 Nov 15;430:120010. Epub 2021 Sep 30 doi: 10.1016/j.jns.2021.120010. PMID: 34624795

Delivering hydrocephalic fetuses.

Strong C
Bioethics 1991 Jan;5(1):1-22. doi: 10.1111/j.1467-8519.1991.tb00141.x. PMID: 11650945

Practical ethics in pediatrics.

Coulter DJ, Murray TH, Cerreto MC
Curr Probl Pediatr 1988 Mar;18(3):143-95. PMID: 11644503

Nontreatment decisions for severely compromised newborns.

Kipnis K, Williamson GM
Ethics 1984 Oct;95(1):90-111. doi: 10.1086/292603. PMID: 11651788

Genetics.

MacLean D
Nurs Mirror 1975 Mar 27;140(13):50-4. PMID: 11662980

See all (104)