Results 11 to 20 of about 598 (144)

A clinical scoring system for congenital contractural arachnodactyly [PDF]

Genetics in Medicine, 2020
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, Wouter Steyaert, Angela Barnicoat   +2 more
exaly   +12 more sources

A novel FBN2 mutation in a Chinese family with congenital contractural arachnodactyly [PDF]

FEBS Open Bio, 2015
Congenital contractural arachnodactyly (CCA, OMIM:121050) is an autosomal dominant condition that shares skeletal features with Marfan syndrome (MFS, OMIM:154700), including contractures, arachnodactyly, dolichostenomelia, scoliosis, crumpled ears and ...
Wei Liu, Ning Zhao, Xue-fu Li, Hong Wang, Yu Sui, Yong-ping Lu, Wen-hua Feng, Chao Ma, Wei-tian Han, Miao Jiang   +9 more
doaj   +3 more sources

FBN2 pathogenic mutation in congenital contractural arachnodactyly with severe skeletal manifestations [PDF]

Molecular Genetics and Metabolism Reports
Background: Congenital contractural arachnodactyly (CCA) is a rare autosomal dominant connective tissue disorder caused by mutations in the fibrillin-2 (FBN2) gene, characterized by crumpled ears, arachnodactyly, camptodactyly, dolichostenomelia, large ...
Yazhou Huang, Xingxin Fang, Linya Ma, Jibo Zhang, Chao Wang, Taoran Gao, Dan Peng   +6 more
doaj   +3 more sources

Congenital contractural arachnodactyly with neurogenic muscular atrophy: case report [PDF]

Arquivos de Neuro-Psiquiatria, 2001
We report the case of a 3-1/2-year-old girl with hypotonia, multiple joint contractures, hip luxation, arachnodactyly, adducted thumbs, dolichostenomelia, and abnormal external ears suggesting the diagnosis of congenital contractural arachnodactyly (CCA).
Rosana Herminia Scola, Lineu Cesar Werneck, Fabio Massaiti Iwamoto, Letícia Cristine Ribas, Salmo Raskin, Ylmar Correa Neto   +5 more
doaj   +5 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

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   +5 more sources

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

Ultrasound in Obstetrics and 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
J Wisser, Beat Steinmann
exaly   +5 more sources

Exome Sequencing Identified a Novel FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly [PDF]

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, Yunlan Xu, Qihua Fu
exaly   +3 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   +5 more sources

Two Novel FBN2 Variants Causing Congenital Contractural Arachnodactyly [PDF]

Genetics Research
Congenital contractural arachnodactyly (CCA) is a rare, autosomal dominant connective tissue disease characterized by arachnodactyly, camptodactyly, multiple joint contractures, tall and slender habitus, crumpled ears, and scoliosis.
Juan Zhao, Xiaolan Zhong, Lijun Du, Shaoqing Jiang, Ping Fang, Kexin Ruan, Sujian He, Guanghong Li, Hui Li, Haiming Yuan   +9 more
doaj   +2 more sources