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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… 
National Institutes of Health

Related topics

Related topics

22 relations
ArthrogryposisAutosomal dominant inheritanceBlepharophimosisBlepharoptosis

Broader (1)

Craniofacial Dysostosis

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2008
Highly Cited
2008
The relative importance of the species pool, productivity and disturbance in regulating grassland plant species richness: a field experiment
1 Ecologists have generally focused on how species interactions and available niches control species richness. However, the… 
2006
2006
Performance of Scroll Expander for CO2 Refrigeration Cycle
Since trans-critical carbon dioxide refrigeration cycles have a large throttling loss, recovering the throttling loss by an… 
2003
2003
Characteristics of Friendships Between Children with and without Mild Disabilities
Friendship is a very important component in human lives, but it is difficult for children with disabilities to make friends with… 
Review
2001
Review
2001
Use of risk adjustment in setting budgets and measuring performance in primary care II: advantages, disadvantages, and practicalities
Risk adjustment could help to improve decisions about budgets as well as help measure the performance of doctors. In the first of… 
Highly Cited
1999
Highly Cited
1999
Flowfield Measurements for a Highly Turbulent Flow in a Stator Vane Passage
Turbine vanes experience high convective surface heat transfer as a consequence of the turbulent flow exiting the combustor… 
1986
1986
New evidence for genetic heterogeneity of the Freeman-Sheldon syndrome.
We report on two sibs (a boy and a girl) with the Freeman-Sheldon (FS) syndrome (also called cranio-carpo-tarsal "dysplasia" or… 
Highly Cited
1985
Highly Cited
1985
High-Power Microwave Generation from a Large-Orbit Gyrotron in Vane and Hole-and-Slot Conducting Wall Geometries
The production of high-power microwave radiation from a large-orbit gyrotron in azimuthally periodic boundary systems is studied… 
1976
1976
Freeman-Sheldon ("whistling face") syndrome.
Freeman-Sheldon ("whistling face") syndrome LA Rinsky;EE Bleck; The Journal of Bone & Joint Surgery 
1971
1971
Familial occurrence of the Freeman-Sheldon syndrome: cranio-carpotarsal dysplasia.
Freeman and Sheldon syndrome known as "cranio-carpo-tarsal displasia" or "Whistling face" deformity is described in a mother and… 
Highly Cited
1967
Highly Cited
1967
The release of catecholamines from the adrenal medulla by peptides.
In the cat, angiotensin and bradykinin release catecholamines from the adrenal medulla (Feldberg & Lewis, 1964, 1965), but… 
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