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Congenital Malformation Syndrome Related to Known Exogenous Cause

MedGen UID:
625502
•Concept ID:
C0452132
•
Congenital Abnormality
Synonym: Congenital Malformation Syndrome due to Known Exogenous Cause

Definition

A syndrome characterized by the presence of structural malformations that are present at birth and can be attributed to an exogenous cause. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital Malformation Syndrome Related to Known Exogenous Cause

Recent clinical studies

Etiology

Mechanisms of oocyte aneuploidy associated with advanced maternal age.
Mikwar M, MacFarlane AJ, Marchetti F
Mutat Res Rev Mutat Res 2020 Jul-Sep;785:108320. Epub 2020 Jul 4 doi: 10.1016/j.mrrev.2020.108320. PMID: 32800274
Altered LINE-1 Methylation in Mothers of Children with Down Syndrome.
Božović IB, Stanković A, Živković M, Vraneković J, Kapović M, Brajenović-Milić B
PLoS One 2015;10(5):e0127423. Epub 2015 May 27 doi: 10.1371/journal.pone.0127423. PMID: 26017139Free PMC Article
The paracrine effect of exogenous growth hormone alleviates dysmorphogenesis caused by tbx5 deficiency in zebrafish (Danio rerio) embryos.
Tsai TC, Lu JK, Choo SL, Yeh SY, Tang RB, Lee HY, Lu JH
J Biomed Sci 2012 Jul 9;19(1):63. doi: 10.1186/1423-0127-19-63. PMID: 22776023Free PMC Article
Sensitivity of RECQL4-deficient fibroblasts from Rothmund-Thomson syndrome patients to genotoxic agents.
Jin W, Liu H, Zhang Y, Otta SK, Plon SE, Wang LL
Hum Genet 2008 Jul;123(6):643-53. Epub 2008 May 27 doi: 10.1007/s00439-008-0518-4. PMID: 18504617Free PMC Article
Methods and concepts in detecting abnormal reproductive outcomes of paternal origin.
Wyrobek AJ
Reprod Toxicol 1993;7 Suppl 1:3-16. doi: 10.1016/0890-6238(93)90064-e. PMID: 8400638

Diagnosis

Sensitivity of RECQL4-deficient fibroblasts from Rothmund-Thomson syndrome patients to genotoxic agents.
Jin W, Liu H, Zhang Y, Otta SK, Plon SE, Wang LL
Hum Genet 2008 Jul;123(6):643-53. Epub 2008 May 27 doi: 10.1007/s00439-008-0518-4. PMID: 18504617Free PMC Article
First and second branchial arch syndrome: aspects on the embryogenesis, elucidations, and rehabilitation using the osseointegration concept.
Granström G, Jacobsson C
Clin Implant Dent Relat Res 1999;1(2):59-69. doi: 10.1111/j.1708-8208.1999.tb00093.x. PMID: 11359299
Methods and concepts in detecting abnormal reproductive outcomes of paternal origin.
Wyrobek AJ
Reprod Toxicol 1993;7 Suppl 1:3-16. doi: 10.1016/0890-6238(93)90064-e. PMID: 8400638
Prenatal sex hormones and the developing brain: effects on psychosexual differentiation and cognitive function.
Ehrhardt AA, Meyer-Bahlburg HF
Annu Rev Med 1979;30:417-30. doi: 10.1146/annurev.me.30.020179.002221. PMID: 400504

Therapy

Altered LINE-1 Methylation in Mothers of Children with Down Syndrome.
Božović IB, Stanković A, Živković M, Vraneković J, Kapović M, Brajenović-Milić B
PLoS One 2015;10(5):e0127423. Epub 2015 May 27 doi: 10.1371/journal.pone.0127423. PMID: 26017139Free PMC Article
The paracrine effect of exogenous growth hormone alleviates dysmorphogenesis caused by tbx5 deficiency in zebrafish (Danio rerio) embryos.
Tsai TC, Lu JK, Choo SL, Yeh SY, Tang RB, Lee HY, Lu JH
J Biomed Sci 2012 Jul 9;19(1):63. doi: 10.1186/1423-0127-19-63. PMID: 22776023Free PMC Article
Micropenis with testicular regression, low LH levels, and poor androgen and HCG responses: a distinct syndrome?
Parisi MA, Kletter GB, Grady R, Mitchell M, Ramsdell LA, Pagon RA
Am J Med Genet 2002 May 15;109(4):271-7. doi: 10.1002/ajmg.10350. PMID: 11992480
Prenatal sex hormones and the developing brain: effects on psychosexual differentiation and cognitive function.
Ehrhardt AA, Meyer-Bahlburg HF
Annu Rev Med 1979;30:417-30. doi: 10.1146/annurev.me.30.020179.002221. PMID: 400504

Prognosis

Brachydactyly type E in two sibs with increased bone density and mental retardation. A new autosomal recessive syndrome?
Stoll C, Alembik Y
Genet Couns 2004;15(4):421-8. PMID: 15658617

Clinical prediction guides

Primary cilia formation requires the Leigh syndrome-associated mitochondrial protein NDUFAF2.
Lo CH, Liu Z, Chen S, Lin F, Berneshawi AR, Yu CQ, Koo EB, Kowal TJ, Ning K, Hu Y, Wang WJ, Liao YJ, Sun Y
J Clin Invest 2024 Jul 1;134(13) doi: 10.1172/JCI175560. PMID: 38949024Free PMC Article
Identification of FAM53C as a cytosolic-anchoring inhibitory binding protein of the kinase DYRK1A.
Miyata Y, Nishida E
Life Sci Alliance 2023 Dec;6(12) Epub 2023 Oct 6 doi: 10.26508/lsa.202302129. PMID: 37802655Free PMC Article
Altered LINE-1 Methylation in Mothers of Children with Down Syndrome.
Božović IB, Stanković A, Živković M, Vraneković J, Kapović M, Brajenović-Milić B
PLoS One 2015;10(5):e0127423. Epub 2015 May 27 doi: 10.1371/journal.pone.0127423. PMID: 26017139Free PMC Article
The paracrine effect of exogenous growth hormone alleviates dysmorphogenesis caused by tbx5 deficiency in zebrafish (Danio rerio) embryos.
Tsai TC, Lu JK, Choo SL, Yeh SY, Tang RB, Lee HY, Lu JH
J Biomed Sci 2012 Jul 9;19(1):63. doi: 10.1186/1423-0127-19-63. PMID: 22776023Free PMC Article
Olfacto-genital dysplasia in the female.
Jones JR, Kemmann E
Obstet Gynecol Annu 1976;5:443-66. PMID: 790240

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