Results 151 to 160 of about 1,472 (192)

Congenital contractural arachnodactyly. A heritable disorder of connective tissue.

The Journal of Bone & Joint Surgery, 1971
Twelve 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
semanticscholar   +3 more sources

Congenital contractural arachnodactyly. A heritable disorder of connective tissue distinct from Marfan syndrome.

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. Macleod, F. Fraser
semanticscholar   +3 more sources

Two novel fibrillin-2 mutations in congenital contractural arachnodactyly

American Journal of Medical Genetics, 2000
Congenital 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, G, Zhou, M, Wang, V M, Der Kaloustian, R A, Pagon, M, Godfrey   +5 more
openaire   +4 more sources

Congenital contractural arachnodactyly (Beals syndrome).

Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi, 2000
Congenital contractural arachnodactyly (CCA, Beals syndrome) is an autosomal dominant disorder that is phenotypically similar to Marfan syndrome. CCA is characterized by arachnodactyly, dolichostenomelia, scoliosis, multiple congenital contractures and abnormalities of the external ears.
P. Su, Houdeshell Jw, W. Hwu, Mei-Hwan Wu, Jou-Kou Wang, Tso-Ren Wang   +5 more
semanticscholar   +3 more sources

Severe congenital contractural arachnodactyly caused by biallelic pathogenic variants in FBN2.

European Journal of Medical Genetics, 2021
Fibrillin-2, encoded by FBN2, plays an important role in the early process of elastic fiber assembly. To date, heterozygous pathogenic variants in FBN2 have been shown to cause congenital contractural arachnodactyly (CCA; Beals-Hecht syndrome). Classical
K. Kloth, A. Neu, I. Rau, W. Hülsemann, K. Kutsche, A. Volk   +5 more
semanticscholar   +1 more source

Congenital contractural arachnodactyly Report of four additional families and review of literature

Clinical Genetics, 1985
M. A. Arroyo, D. Weaver, R. K. Beals
semanticscholar   +3 more sources

Fibrillin–2 (FBN2) mutations result in the Marfan–like disorder, congenital contractural arachnodactyly

Nature Genetics, 1995
E. A. Putnam, Hui Zhang, F. Ramirez, D. Milewicz   +3 more
semanticscholar   +3 more sources

Congenital contractural arachnodactyly (Beals-Hecht syndrome): a rare connective tissue disorder

Wiener Klinische Wochenschrift, 2013
A. Jurko, J. Kršiaková, M. Minarik, I. Tonhajzerova   +3 more
semanticscholar   +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

A severe form of congenital contractural arachnodactyly in two newborn infants.

American Journal of Medical Genetics Part A, 1986
G. Currarino, J. M. Friedman, J. M. Opitz, J. Reynolds   +3 more
semanticscholar   +3 more sources