Results 171 to 180 of about 1,472 (192)

Ectopia lentis and aortic root dilatation in congenital contractural arachnodactyly

American Journal of Medical Genetics, 1992
AbstractCongenital contractural arachnodactyly (CCA) was described by Beals and Hecht as an autosomal dominant disorder distinct from Marfan syndrome and comprising joint contractures, arachnodactyly, scoliosis, and a distinct “crumpled ear” deformity.
E, Bawle, M H, Quigg
openaire   +2 more sources

Congenital contractural arachnodactyly in two double second cousins: possible homozygosity

Clinical Genetics, 1993
Bistritzer T, Fried K, Lahat E, Dvir M, Goldberg M. Congenital contractural arachnodactyly in two double second cousins: possible homozygosity.Clin Genet 1993: 44: 15–19. © Munksgaard, 1993A Bedouin family with two girls affected by severe congenital contractural arachnodactyly (CCA) is described. The girls were double second cousins.
T, Bistritzer, K, Fried, E, Lahat, M, Dvir, M, Goldberg   +4 more
openaire   +2 more sources

A novel pathogenic mutation in FBN2 associated with congenital contractural arachnodactyly for preimplantation genetic diagnosis.

Journal of genetics and genomics = Yi chuan xue bao, 2020
Jiaxin Li, Yuqian Wang, Xiaohui Zhu, Y. Nie, Ying Kuo, Shuo Guan, Jin Huang, Y. Lian, Yangyu Zhao, Rong Li, Yuan Wei, J. Qiao, Liying Yan   +12 more
semanticscholar   +1 more source

Congenital contractural arachnodactyly: description of a new kindred.

Arthritis and rheumatism, 1979
A previously unreported case of congenital contractural arachnodactyly (CCA) is described. This hereditary connective tissue abnormality resembles Marfan's syndrome in certain respects, but is characterized by camptodactyly rather than joint laxity, as well as by congenital contractural deformities of the knees and elbows.
R T, Mirise, S, Shear
openaire   +1 more source

Congenital contractural arachnodactyly in a black African kindred.

The Central African journal of medicine, 1992
Congenital Contractural Arachnodactyly is an inherited disorder of connective tissue characterised by congenital contractures, arachnodactyly, marfanoid habitus, crumpled auricles and in some kindreds, progressive kyphoscoliosis. An extensive kindred with many affected members is described.
S, Wainer, E T, Vos
openaire   +1 more source

Congenital contractural arachnodactyly complicated with aortic dilatation and dissection: Case report and review of literature

American Journal of Medical Genetics. Part A, 2015
N. Takeda, H. Morita, Daishi Fujita, R. Inuzuka, Y. Taniguchi, Y. Imai, Y. Hirata, I. Komuro   +7 more
semanticscholar   +1 more source

Beals-Hecht syndrome (congenital contractural arachnodactyly) with additional craniospinal abnormality: a case report.

Journal of pediatric orthopedics. Part B, 2015
J. Meena, A. Gupta, D. Mishra, M. Juneja
semanticscholar   +1 more source

Genetic Linkage of the Marfan Syndrome, Ectopia Lentis, and Congenital Contractural Arachnodactyly to the Fibrillin Genes on Chromosomes 15 and 5

New England Journal of Medicine, 1992
Brendan Lee, Emilia Vitale, Beat Steinmann   +2 more
exaly  

[Congenital contractural arachnodactyly].

Nederlands tijdschrift voor geneeskunde, 1980
H A, Delemarre-van de Waal, L H, van Benthem, E M, Bleeker-Wagemakers   +2 more
openaire   +1 more source

FBN2,FBN1,TGFBR1, andTGFBR2 analyses in congenital contractural arachnodactyly

American Journal of Medical Genetics, Part A, 2007
Shiro Ikegawa, Hirotomo Saitsu, Naomichi Matsumoto   +2 more
exaly