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. Interestin
A severe form of congenital contractural arachnodactyly in two newborn infants
โ Scribed by Currarino, Guido ;Friedman, J. M. ;Opitz, John M. ;Reynolds, James F.
- Publisher
- John Wiley and Sons
- Year
- 1986
- Tongue
- English
- Weight
- 712 KB
- Volume
- 25
- Category
- Article
- ISSN
- 0148-7299
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
Congenital contractural arachnodactyly (CCA) is an autosomal dominant condition that shares skeletal features with Marfan syndrome (MFS), but does not have the ocular and cardiovascular complications that characterize MFS. CCA and MFS result from mutations in highly similar genes, FBN2 and FBN1, res
## Congenital contractural arachnodactyly (CCA) is an autosomal dominant condition phenotypically related to Marfan syndrome (MFS). CCA is caused by mutations in FBN2, whereas MFS results from mutations in FBN1. FBN2 mRNA extracted from 12 unrelated CCA patient cell strains was screened for mutati