| Literature DB >> 6465201 |
R A Anderson, S Koch, R D Camerini-Otero.
Abstract
Three generations of a kindred had a history and physical findings consistent with congenital contractural arachnodactyly (CCA) segregating in an autosomal-dominant manner. Six of the seven affected patients we examined had mitral valve prolapse (MVP) diagnosed clinically or by echocardiography. The family members without CCA did not have MVP. This association of cardiac involvement with CCA further lessens the distinction between CCA and the Marfan syndrome. The indication for ophthamologic and echocardiographic follow-up of patients carrying the diagnosis of CCA is stressed.Entities:
Mesh:
Year: 1984 PMID: 6465201 DOI: 10.1002/ajmg.1320180210
Source DB: PubMed Journal: Am J Med Genet ISSN: 0148-7299