Results 21 to 30 of about 1,472 (192)

Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: Report of 14 novel mutations and review of the literature [PDF]

Human Mutation, 2009
Beals‐Hecht syndrome or congenital contractural arachnodactyly (CCA) is a rare, autosomal dominant connective tissue disorder characterized by crumpled ears, arachnodactyly, contractures, and scoliosis. Recent reports also mention aortic root dilatation,
B. Callewaert, B. Loeys, A. Ficcadenti, S. Vermeer, M. Landgren, H. Kroes, Y. Yaron, M. Pope, N. Foulds, O. Boute, F. Galán, H. Kingston, N. van der Aa, Iratxe Salcedo, M. Swinkels, C. Wallgren‐Pettersson, O. Gabrielli, J. De Backer, P. Coucke, A. De Paepe   +19 more
semanticscholar   +4 more sources

Congenital Contractural Arachnodactyly [PDF]

Acta Orthopaedica Scandinavica, 1976
Five cases of congenital contractural arachnodactyly (CCA) are reported. Three belong to the one family. CCA has often been mistaken for Marfan's disease and arthrogrypois multiplex. Because CCA has a more favourable prognosis, it is very important to be able to recognize this syndrome.
I, Bjerkreim, L B, Skogland, O, Trygstad
exaly   +7 more sources

A clinical scoring system for congenital contractural arachnodactyly [PDF]

Genetics in Medicine, 2019
Congenital contractural arachnodactyly (CCA) is an autosomal dominant connective tissue disorder manifesting joint contractures, arachnodactyly, crumpled ears, and kyphoscoliosis as main features. Due to its rarity, rather aspecific clinical presentation, and overlap with other conditions including Marfan syndrome, the diagnosis is challenging, but ...
Ilse Meerschaut, S. De Coninck, W. Steyaert, A. Barnicoat, A. Bayat, F. Benedicenti, S. Berland, E. Blair, J. Breckpot, Anna de Burca, A. Destrėe, S. García-Miñaúr, A. Green, B. Hanna, K. Keymolen, M. Koopmans, D. Lederer, M. Lees, C. Longman, S. Lynch, Alison M. Male, F. McKenzie, I. Migeotte, E. Mıhçı, B. Nur, F. Petit, J. Piard, F. Plasschaert, A. Rauch, P. Ribaï, Iratxe Salcedo Pacheco, F. Stanzial, I. Stolte-Dijkstra, I. Valenzuela, V. Varghese, P. Vasudevan, E. Wakeling, C. Wallgren‐Pettersson, P. Coucke, A. De Paepe, D. De Wolf, S. Symoens, B. Callewaert   +42 more
semanticscholar   +7 more sources

Cardiac anomalies complicating congenital contractural arachnodactyly. [PDF]

Arch Dis Child, 1991
A newborn boy with congenital contractural arachnodactyly (CCA) was found to have an atrial septal defect, ventricular septal defect, patent ductus arteriosus, and aortic arch anomalies. These resulted in congestive failure but subsequent progressive dilatation of both great arteries and development of aortic regurgitation were associated with eventual
Macnab AJ, D'Orsogna L, Cole DE, Baguley PE, Adderley RJ, Patterson MW.   +5 more
europepmc   +6 more sources

Missense variants of FBN2 associated with congenital arachnodactyly in three Chinese families [PDF]

Molecular Genetics and Metabolism Reports
Background: Congenital contractural arachnodactyly (CCA) is a rare autosomal dominant disorder caused by pathogenic variants of Fibrillin-2 (FBN2) gene. This study aimed to investigate the variants in three Chinese families with CCA.
Yu Sui, Yongping Lu, Meina Lin, Xinren Chen, Xiang Ni, Huan Li, Miao Jiang   +6 more
doaj   +3 more sources

The clinical application of preimplantation genetic diagnosis for the patient affected by congenital contractural arachnodactyly and spinal and bulbar muscular atrophy. [PDF]

J Assist Reprod Genet, 2016
Chen L, Diao Z, Xu Z, Zhou J, Wang W, Li J, Yan G, Sun H.   +7 more
europepmc   +4 more sources

Congenital contractural arachnodactyly (Beals syndrome). [PDF]

J Med Genet, 1994
Congenital contractural arachnodactyly (CCA) is an autosomal dominant disorder akin to, but usually less severe than, Marfan syndrome. The clinical features are marfanoid habitus, arachnodactyly, crumpled ears, camptodactyly of the fingers and adducted thumbs, mild contractures of the elbows, knees, and hips, and mild muscle hypoplasia especially of ...
Viljoen D.
europepmc   +6 more sources

Pulmonary non-tuberculous mycobacterial infection in congenital contractural arachnodactyly. [PDF]

Int J Tuberc Lung Dis, 2012
Congenital contractural arachnodactyly (CCA) is caused by mutations within the fibrillin-2 gene (FBN2), which is crucial for microfibril structure. Affected individuals may have contractures, chest wall deformities, scoliosis, abnormal ear folding and elongated limbs.
Paulson ML, Olivier KN, Holland SM.
europepmc   +4 more sources

Prenatal ultrasound findings in a fetus with congenital contractural arachnodactyly [PDF]

Ultrasound in Obstetrics & Gynecology, 2002
AbstractCongenital contractural arachnodactyly (CCA) or Beals–Hecht syndrome is an autosomal dominant disorder caused by mutations in the fibrillin‐2 (FBN2) gene. The principal features of CCA are a marfanoid habitus, multiple congenital contractures, camptodactyly, arachnodactyly, kyphoscoliosis, muscular hypoplasia, and external ear malformations.Our
N, Kölble, J, Wisser, D, Babcock, C, Maslen, R, Huch, B, Steinmann   +5 more
exaly   +6 more sources

Congenital contractural arachnodactyly due to a novel splice site mutation in the FBN2 gene.

J Pediatr Genet, 2014
Mehar V, Yadav D, Kumar R, Kumar R, Yadav S, Singh K, Callewaert B, Pathan S, De Paepe A, Coucke PJ.   +9 more
europepmc   +4 more sources