Results 151 to 160 of about 3,083 (188)

A clinical scoring system for congenital contractural arachnodactyly [PDF]

Genetics in Medicine, 2020
PURPOSE: Congenital contractural arachnodactyly (CCA) is an autosomal dominant connective tissue disorder manifesting joint contractures, arachnodactyly, crumpled ears, and kyphoscoliosis as main features.
Juliette Piard, Ilse Meerschaut, Emma Wakeling   +2 more
exaly   +4 more sources

Familial chilblain and late contractural arachnodactyly: A novel association?

Joint Bone Spine, 2009
We report an Italian family suffering from chilblain. Seven members over three generations affected, two of them presenting association with late contractural arachnodactyly.
Alessandro Mathieu, Matteo Piga, Alberto Cauli   +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, Qihua Fu
exaly   +2 more sources

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
exaly   +2 more sources

Congenital Contractural Arachnodactyly and Femoral Fracture in a Newborn Infant: A Causal Relationship or a Coincidence?

American Journal of Perinatology, 2004
Congenital contractural arachnodactyly (CCA, Beals syndrome) is an autosomal-dominant connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscollosis, abnormal pinnae, and muscular hypoplasia.
Serhan Küpeli, Ayse Korkmaz
exaly   +2 more sources

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Arachnodactyly represented in art

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, 2021
AbstractArachnodactyly, a term used since 1902 to describe abnormally long (spider‐like) fingers, is a pathologic feature of several heritable conditions, notably the Marfan syndrome and congenital contractural arachnodactyly. A number of prominent artists, dating from the 16th to the 20th centuries, have depicted subjects with unusually long fingers ...
Reed Pyeritz
exaly   +3 more sources

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
openaire   +2 more sources

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

Arachnodactyly.

Alberta medical bulletin, 2003
J. David Godwin, Thurman Gillespy
  +8 more sources