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Congenital Disruption

MedGen UID:
859099
•Concept ID:
C3899505
•
Congenital Abnormality

Definition

A morphologic defect of an organ, part of an organ, or a larger region of the body that results from the extrinsic breakdown of, or an interference with, an originally normal developmental process. [from NCI]

Term Hierarchy

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

Professional guidelines

PubMed

Pubertal induction and transition to adult sex hormone replacement in patients with congenital pituitary or gonadal reproductive hormone deficiency: an Endo-ERN clinical practice guideline.
Nordenström A, Ahmed SF, van den Akker E, Blair J, Bonomi M, Brachet C, Broersen LHA, Claahsen-van der Grinten HL, Dessens AB, Gawlik A, Gravholt CH, Juul A, Krausz C, Raivio T, Smyth A, Touraine P, Vitali D, Dekkers OM
Eur J Endocrinol 2022 Apr 21;186(6):G9-G49. doi: 10.1530/EJE-22-0073. PMID: 35353710Free PMC Article
Biology of Inherited Cataracts and Opportunities for Treatment.
Shiels A, Hejtmancik JF
Annu Rev Vis Sci 2019 Sep 15;5:123-149. doi: 10.1146/annurev-vision-091517-034346. PMID: 31525139Free PMC Article
Review article: the diagnostic approach and current management of chylous ascites.
Lizaola B, Bonder A, Trivedi HD, Tapper EB, Cardenas A
Aliment Pharmacol Ther 2017 Nov;46(9):816-824. Epub 2017 Sep 11 doi: 10.1111/apt.14284. PMID: 28892178

Recent clinical studies

Etiology

Pharmacological Inhibition of MALT1 Protease Leads to a Progressive IPEX-Like Pathology.
Martin K, Junker U, Tritto E, Sutter E, Rubic-Schneider T, Morgan H, Niwa S, Li J, Schlapbach A, Walker D, Bigaud M, Beerli C, Littlewood-Evans A, Rudolph B, Laisney M, Ledieu D, Beltz K, Quancard J, Bornancin F, Zamurovic Ribrioux N, Calzascia T
Front Immunol 2020;11:745. Epub 2020 Apr 30 doi: 10.3389/fimmu.2020.00745. PMID: 32425939Free PMC Article
Agenesis of the corpus callosum and autism: a comprehensive comparison.
Paul LK, Corsello C, Kennedy DP, Adolphs R
Brain 2014 Jun;137(Pt 6):1813-29. Epub 2014 Apr 25 doi: 10.1093/brain/awu070. PMID: 24771497Free PMC Article

Diagnosis

Agenesis of the corpus callosum and autism: a comprehensive comparison.
Paul LK, Corsello C, Kennedy DP, Adolphs R
Brain 2014 Jun;137(Pt 6):1813-29. Epub 2014 Apr 25 doi: 10.1093/brain/awu070. PMID: 24771497Free PMC Article

Clinical prediction guides

Agenesis of the corpus callosum and autism: a comprehensive comparison.
Paul LK, Corsello C, Kennedy DP, Adolphs R
Brain 2014 Jun;137(Pt 6):1813-29. Epub 2014 Apr 25 doi: 10.1093/brain/awu070. PMID: 24771497Free PMC Article

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    Practice guidelines

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