Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1994 1
2006 1
2007 1
2018 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

4 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Lethal congenital contracture syndrome 6"
Page 1
Lethal congenital contracture syndrome (LCCS) and other lethal arthrogryposes in Finland--an epidemiological study.
Pakkasjärvi N, Ritvanen A, Herva R, Peltonen L, Kestilä M, Ignatius J. Pakkasjärvi N, et al. Am J Med Genet A. 2006 Sep 1;140A(17):1834-9. doi: 10.1002/ajmg.a.31381. Am J Med Genet A. 2006. PMID: 16892327
In 141 out of these cases the diagnosis could be included within lethal arthrogryposes, with a prevalence of 1 in 6,985 (1.43/10,000) births. Of these, 59 had spinal cord pathology at autopsy and thus were of neurogenic origin. Thirty-nine cases had lethal …
In 141 out of these cases the diagnosis could be included within lethal arthrogryposes, with a prevalence of 1 in 6,985 (1.43/ …
Lethal arthrogryposis in Finland--a clinico-pathological study of 83 cases during thirteen years.
Vuopala K, Leisti J, Herva R. Vuopala K, et al. Neuropediatrics. 1994 Dec;25(6):308-15. doi: 10.1055/s-2008-1073045. Neuropediatrics. 1994. PMID: 7770128 Review.
Eighty-three cases of multiple congenital joint contractures, i.e., arthrogryposis, which were related with either a stillborn fetus, a termination of pregnancy following prenatal diagnosis or death within 28 days postnatally, were studied. Sixty-seven cases were ne …
Eighty-three cases of multiple congenital joint contractures, i.e., arthrogryposis, which were related with either a stillborn …
Lethal congenital contractural syndrome type 2 (LCCS2) is caused by a mutation in ERBB3 (Her3), a modulator of the phosphatidylinositol-3-kinase/Akt pathway.
Narkis G, Ofir R, Manor E, Landau D, Elbedour K, Birk OS. Narkis G, et al. Am J Hum Genet. 2007 Sep;81(3):589-95. doi: 10.1086/520770. Epub 2007 Jul 24. Am J Hum Genet. 2007. PMID: 17701904 Free PMC article.
Lethal congenital contractural syndrome type 2 (LCCS2) is an autosomal recessive neurogenic form of arthrogryposis that is associated with atrophy of the anterior horn of the spinal cord. We previously mapped LCCS2 to 6.4 Mb on chromosome 12q13 …
Lethal congenital contractural syndrome type 2 (LCCS2) is an autosomal recessive neurogenic form of arthrogrypos …
Absence of Axoglial Paranodal Junctions in a Child With CNTNAP1 Mutations, Hypomyelination, and Arthrogryposis.
Conant A, Curiel J, Pizzino A, Sabetrasekh P, Murphy J, Bloom M, Evans SH, Helman G, Taft RJ, Simons C, Whitehead MT, Moore SA, Vanderver A. Conant A, et al. J Child Neurol. 2018 Sep;33(10):642-650. doi: 10.1177/0883073818776157. Epub 2018 Jun 8. J Child Neurol. 2018. PMID: 29882456 Free PMC article.
Two such individuals presented with arthrogryposis multiplex congenita, congenital hypomyelinating neuropathy, and central hypomyelination with early respiratory failure. ...
Two such individuals presented with arthrogryposis multiplex congenita, congenital hypomyelinating neuropathy, and central hypomyelin …