Results 111 to 120 of about 598 (144)
Some of the next articles are maybe not open access.
Congenital contractural arachnodactyly with unilateral lower limb deficiency
American Journal of Medical Genetics Part A, 1992AbstractWe report an infant with congenital contractural arachnodactyly and a unilateral lower limb deficiency. © 1992 Wiley‐Liss, Inc.
T R Cole, H E Hughes
exaly +3 more sources
Congenital Contractural Arachnodactyly
American Journal of Diseases of Children, 1973 Congenital contractural arachnodactyly is a newly delineated, dominantly inherited syndrome of multiple congenital joint contractures, arachnodactyly, deformed ears, and kyphoscoliosis. The importance of differentiating this syndrome from Marfan syndrome and arthrogryposis multiplex congenita, the two disorders it most closely resembles, is emphasized
P M, MacLeod, F C, Fraser
openaire +3 more sources
Cardiovascular findings in congenital contractural arachnodactyly: Report of an affected kindred
American Journal of Medical Genetics Part A, 1984AbstractThree generations of a kindred had a history and physical findings consistent with congenital contractural arachnodactyly (CCA) segregating in an autosomal‐dominant manner. Six of the seven affected patients we examined had mitral valve prolapse (MVP) diagnosed clinically or by echocardiography.
Richard A Anderson +2 more
exaly +3 more sources
Two novel fibrillin-2 mutations in congenital contractural arachnodactyly
American Journal of Medical Genetics, 2000Congenital contractural arachnodactyly (CCA) is an autosomal dominant connective tissue disorder, comprising marfanoid habitus, flexion contractures, severe kyphoscoliosis, abnormal pinnae, and muscular hypoplasia. It is now known that mutations in the gene encoding fibrillin-2 cause CCA.
Guimei Zhou +2 more
exaly +3 more sources
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
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 +2 more
exaly +1 more source
Congenital contractural arachnodactyly
Medical Journal of Australia, 1983Congenital 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 Journal of Bone & Joint Surgery, 1971Twelve kindreds with congenital contractural arachnodactyly, a distinct syndrome of arachnodactyly, dolichostenomelia, contractures, scoliosis, characteristic ear shape, and normal intelligence that is transmitted by autosomal dominant inheritance have been identified in the literature and two additional kindreds described.
R K, Beals, F, Hecht
openaire +2 more sources