Results 151 to 160 of about 2,852 (190)

Further delineation of a new (Van Den Ende-Gupta) syndrome of blepharophimosis, contractural arachnodactyly, and characteristic face

American Journal of Medical Genetics Part A, 1998
We report on 2 unrelated Indian girls with blepharophimosis; arachnodactyly; digital contractures which improved spontaneously; elbow deformity; beaked nose; everted lips; large ears; findings similar to those in 2 cases reported previously by Van Den ...
Shubha R Phadke, Reena Gulati, S S Agarwal   +2 more
exaly   +2 more sources

Exome Sequencing Identified a Novel FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly

International Journal of Molecular Sciences, 2017
Congenital contractural arachnodactyly (CCA) is an autosomal dominant disorder of connective tissue. CCA is characterized by arachnodactyly, camptodactyly, contrature of major joints, scoliosis, pectus deformities, and crumpled ears.
Guoling You, Yunlan Xu, Qihua Fu
exaly   +2 more sources

Arachnodactyly

, 2014
Ghazi M. Rayan, Joseph Upton III
openaire   +2 more sources

Arachnodactyly

, 2004
openaire   +2 more sources

Ten novelFBN2mutations in congenital contractural arachnodactyly: Delineation of the molecular pathogenesis and clinical phenotype

Human Mutation, 2002
Congenital contractural arachnodactyly (CCA) is an autosomal dominant condition that shares skeletal features with Marfan syndrome (MFS), but does not have the ocular and cardiovascular complications that characterize MFS.
Anne Child, Kay Metcalfe, Susan A Berry   +2 more
exaly   +1 more source

Arachnodactyly

, 2006
openaire   +2 more sources

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Congenital contractural arachnodactyly

Medical Journal of Australia, 1983
Congenital contractural arachnodactyly is an inherited disorder of connective tissue. A family with the condition is described.
D, Forbes, R, Hagan
openaire   +2 more sources

Congenital contractural arachnodactyly

The British Journal of Radiology, 1985
Congenital Contractural Arachnodactyly (CCA) has emerged as a separate entity from Marfan's syndrome (Beals & Hecht, 1971, Hecht & Beals, 1972, Macleod & Clarke Fraser, 1973). Indeed Marfan's original patient in 1896 is now thought to be an example of CCA. The features are multiple joint contractures, arachnodactyly, dolichostenomelia (long, thin limbs)
R C, Travis, D G, Shaw
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Beals' arachnodactyly

, 2004
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Congenital Contractural Arachnodactyly

Archives of Pediatrics & Adolescent Medicine, 1979
Sir .—I read with interest the article in theJournal(133:639-640, 1979) concerning congenital contractural arachnodactyly (CCA) as I have also studied a case diagnosed at birth. As a matter of record, the patient was born Oct 17, 1977, and was recognized at that time as having most of the features as described in the syndrome of CCA.
openaire   +2 more sources