Freeman-Sheldon syndrome

Known as: Windmill-Vane-Hand Syndrome, Distal Arthrogryposis, Type 2A, Whistling Face-Windmill Vane Hand Syndrome 
A rare syndrome that is inherited in an autosomal dominant or recessive pattern and caused by mutations in the MYH3 gene. It is a severe form of… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1945-2018
0102019452017

Papers overview

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2014
2014
Distal arthrogryposis (DA) syndromes are a group of disorders characterized by multiple congenital contractures. DA type 2A (DA2A… (More)
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2009
Highly Cited
2009
Genome-wide association studies suggest that common genetic variants explain only a modest fraction of heritable risk for common… (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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2006
2006
OBJECTIVE Freeman-Sheldon syndrome (FSS) is a rare, multiple congenital contracture syndrome that is nonetheless relatively well… (More)
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2003
2003
BACKGROUND Freeman-Sheldon syndrome is a rare hereditary disorder characterised by three basic abnormalities, namely microstomia… (More)
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1999
1999
PURPOSE To present a case of Freeman-Sheldon syndrome (FSS) with a previously unreported technique of anesthetic management… (More)
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1998
1998
We describe the clinical characteristics of a provisionally unique form of distal arthrogryposis. The anomalies observed in… (More)
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1997
1997
Distal arthrogryposis type 1 (DA1) and Freeman-Sheldon syndrome (FSS) are the two most common known causes of inherited multiple… (More)
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1994
1994
In this report, we describe a case of microstomia associated with club feet and ulnar deviation of the hands (Freeman-Sheldon… (More)
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1990
1990
The authors report two cases of Freeman-Sheldon syndrome, characterised by recessive autosomic transmission, affecting a brother… (More)
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