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Lethal congenital contracture syndrome

MedGen UID:
799059
Concept ID:
CN203184
Congenital Abnormality
Synonyms: LCCS
 
Orphanet: ORPHA294965

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLethal congenital contracture syndrome
Follow this link to review classifications for Lethal congenital contracture syndrome in Orphanet.

Recent clinical studies

Etiology

Pakkasjärvi N, Ritvanen A, Herva R, Peltonen L, Kestilä M, Ignatius J
Am J Med Genet A 2006 Sep 1;140A(17):1834-9. doi: 10.1002/ajmg.a.31381. PMID: 16892327
Pakkasjärvi N, Gentile M, Saharinen J, Honkanen J, Herva R, Peltonen L, Kestilä M
J Neurobiol 2005 Dec;65(3):269-81. doi: 10.1002/neu.20185. PMID: 16155903
Vuopala K, Herva R
J Med Genet 1994 Jul;31(7):521-7. PMID: 7966188Free PMC Article
Vuopala K, Leisti J, Herva R
Neuropediatrics 1994 Dec;25(6):308-15. doi: 10.1055/s-2008-1073045. PMID: 7770128

Diagnosis

Pakkasjärvi N, Ritvanen A, Herva R, Peltonen L, Kestilä M, Ignatius J
Am J Med Genet A 2006 Sep 1;140A(17):1834-9. doi: 10.1002/ajmg.a.31381. PMID: 16892327
Landau D, Mishori-Dery A, Hershkovitz R, Narkis G, Elbedour K, Carmi R
Am J Med Genet A 2003 Feb 15;117A(1):37-40. doi: 10.1002/ajmg.a.10894. PMID: 12548738
Kho N, Czarnecki L, Kerrigan JF, Coons S
J Child Neurol 2002 May;17(5):397-9. doi: 10.1177/088307380201700519. PMID: 12150592
Vuopala K, Herva R
J Med Genet 1994 Jul;31(7):521-7. PMID: 7966188Free PMC Article
Vuopala K, Leisti J, Herva R
Neuropediatrics 1994 Dec;25(6):308-15. doi: 10.1055/s-2008-1073045. PMID: 7770128

Prognosis

Folkmann AW, Dawson TR, Wente SR
Adv Biol Regul 2014 Jan;54:74-91. Epub 2013 Nov 13 doi: 10.1016/j.jbior.2013.10.002. PMID: 24275432Free PMC Article
Kho N, Czarnecki L, Kerrigan JF, Coons S
J Child Neurol 2002 May;17(5):397-9. doi: 10.1177/088307380201700519. PMID: 12150592

Clinical prediction guides

Folkmann AW, Dawson TR, Wente SR
Adv Biol Regul 2014 Jan;54:74-91. Epub 2013 Nov 13 doi: 10.1016/j.jbior.2013.10.002. PMID: 24275432Free PMC Article
Jao LE, Appel B, Wente SR
Development 2012 Apr;139(7):1316-26. Epub 2012 Feb 22 doi: 10.1242/dev.074344. PMID: 22357925Free PMC Article
Kho N, Czarnecki L, Kerrigan JF, Coons S
J Child Neurol 2002 May;17(5):397-9. doi: 10.1177/088307380201700519. PMID: 12150592
Mäkelä-Bengs P, Järvinen N, Vuopala K, Suomalainen A, Ignatius J, Sipilä M, Herva R, Palotie A, Peltonen L
Am J Hum Genet 1998 Aug;63(2):506-16. doi: 10.1086/301968. PMID: 9683599Free PMC Article

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