Article
Ectopia lentis and aortic root dilatation in congenital contractural arachnodactyly.
American journal of medical genetics - 1 Jan 1992
Bawle E, Quigg M H
Abstract excerpt
Congenital 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. While the disorder is similar to Marfan syndrome, it...
Topics
- Aortic Aneurysm
- Child
- Ectopia Lentis
- Humans
- Male
- Marfan Syndrome
- Phenotype
- Syndrome
- Terminology as Topic