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Congenital Camptodactyly

Known as: Camptodactyly, camptodactylia, campylodactyly 
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active… Expand
National Institutes of Health

Papers overview

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2014
2014
Most reported mutations in the FGFR3 gene are dominant activating mutations that cause a variety of short-limbed bone dysplasias… Expand
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2007
2007
Crisponi syndrome is a severe autosomal recessive condition that is phenotypically characterized by abnormal, paroxysmal muscular… Expand
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Review
2006
Review
2006
Congenital contractural arachnodactyly (Beals syndrome) is an autosomal dominantly inherited connective tissue disorder… Expand
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2005
2005
The Shprintzen-Goldberg syndrome (SGS) is a disorder of unknown cause comprising craniosynostosis, a marfanoid habitus and… Expand
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2005
2005
Aicardi syndrome is a sporadic disorder that affects primarily females and is hypothesized to be caused by heterozygous mutations… Expand
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2001
2001
In this report we describe the purification of human superficial zone protein (SZP), the generation of cross-species monoclonal… Expand
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Highly Cited
1999
Highly Cited
1999
Altered growth and function of synoviocytes, the intimal cells which line joint cavities and tendon sheaths, occur in a number of… Expand
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1998
1998
OBJECTIVE To delineate the clinical features in patients with the autosomal recessive camptodactyly-arthropathy-coxa vara… Expand
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Highly Cited
1974
Highly Cited
1974
1. Kendall, N., and Woloshin, H.: Cephalhematoma associated with fracture of the skull, J. PEDIATR. 41: 125, 1952. 2. Rainaldi, V… Expand
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Highly Cited
1974
Highly Cited
1974
Two strikingly similar unrelated male children have the following pattern of anomalies: accelerated growth and osseous maturation… Expand
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