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Congenital contractural arachnodactyly. Report of a case and of an operation for knee contracture
The Journal of Bone and Joint Surgery. British volume, 1985 A patient with typical congenital contractural arachnodactyly followed up from the age of 12 years to the age of 48 is reported. He had spiderlike fingers and toes and marked contractures of the knees, ankles, toes, shoulders, elbows and fingers; the mobility of the hips and wrists was almost normal.
A Langenskiold
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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
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Prenatal Diagnosis in Congenital Contractural Arachnodactyly
Genetic Testing, 1997 Congenital contractural arachnodactyly (CCA) is a heritable connective tissue disorder caused by defects in the gene encoding fibrillin-2 (FBN2). People with CCA typically have a marfanoid habitus, flexion contractures, severe kyphoscoliosis, abnormal pinnae, and muscular hypoplasia. Because of the relative infrequency of the syndrome and its generally
S, Belleh +3 more
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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
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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 Anderson +1 more
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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.
S, Belleh +5 more
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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
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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
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