Congenital contracture

Known as: Congenital contractures, Congenital joint contractures, Contractures, congenital 
One or more flexion contractures (a bent joint that cannot be straightened actively or passively) that are present at birth. [HPO:probinson]
National Institutes of Health

Papers overview

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2015
2015
Freeman-Sheldon syndrome, or distal arthrogryposis type 2A (DA2A), is an autosomal-dominant condition caused by mutations in MYH3… (More)
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2014
2014
Using a combination of homozygosity mapping and whole-exome sequencing (WES), we identified a novel missense c.1819G>A mutation… (More)
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2014
2014
Arthrogryposis has been the term used to describe multiple congenital contractures for over a century. It is a descriptive term… (More)
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2010
2010
We previously described two unrelated patients showing characteristic facial and skeletal features, overlapping with the… (More)
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Highly Cited
2006
Highly Cited
2006
The genetic basis of most conditions characterized by congenital contractures is largely unknown. Here we show that mutations in… (More)
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Highly Cited
2004
Highly Cited
2004
Bruck syndrome (BS) is a recessively-inherited phenotypic disorder featuring the unusual combination of skeletal changes… (More)
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1999
1999
Bethlem myopathy is an early-onset benign autosomal dominant myopathy with contractures caused by mutations in collagen type VI… (More)
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1998
1998
We describe a new myopathy in a large family with 19 affected cases. Inheritance was autosomal dominant. Characteristic clinical… (More)
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1989
1989
Five children from three unrelated families were born with symmetrical contractures of the knees, ankles and feet. An initial… (More)
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1983
1983
A specific congenital contracture (arthrogryposis) syndrome has been recognized in 135 out of 350 patients with various kinds of… (More)
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