Affiliation:
1. Division of Medical Genetics, Departments of Orthopedics and Pediatrics, and Genetics Clinic, Crippled Children's Division, University of Oregon Medical School, Portland, Oregon
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.
Publisher
American Academy of Pediatrics (AAP)
Subject
Pediatrics, Perinatology, and Child Health
Cited by
15 articles.
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