Title: "NEW" SYNDROME OF CONGENITAL CONTRACTURAL ARACHNODACTYLY ORIGINALLY DESCRIBED BY MARFAN IN 1896
Abstract: Congenital contractural arachnodactyly (CCA) is a newly delineated disease. Several CCA families are described. Key features of CCA are multiple congenital joint contractures, arachnodactyly, "crumpled" ears, and kyphoscoliosis. The joint contractures are maximal at the knees and usually improve spontaneously, whereas the kyphoscoliosis usually worsens with age. There is no ocular or cardiovascular involvement. Transmission is as an autosomal dominant trait. Historically CCA is of interest, because it was confused with Marfan's syndrome. Reports of patients with what appears to be CCA were encountered from various parts of the world dating from every decade since 1900. We believe the earliest description to be by Marfan in 1896. We conclude that Marfan's original patient had CCA and not what is known today as Marfan's syndrome.
Publication Year: 1972
Publication Date: 1972-04-01
Language: en
Type: article
Indexed In: ['crossref', 'pubmed']
Access and Citation
Cited By Count: 114
AI Researcher Chatbot
Get quick answers to your questions about the article from our AI researcher chatbot