Cardiovascular findings in congenital contractural arachnodactyly: Report of an affected kindred
- 3 June 1984
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 18 (2) , 265-271
- https://doi.org/10.1002/ajmg.1320180210
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.Keywords
This publication has 10 references indexed in Scilit:
- Inheritance of Mitral Valve Prolapse: Effect of Age and Sex on Gene ExpressionAnnals of Internal Medicine, 1982
- The distal arthrogryposes: Delineation of new entities – review and nosologic discussionAmerican Journal of Medical Genetics, 1982
- Maternal and fetal complications of pregnancy in the Marfan syndromeThe American Journal of Medicine, 1981
- Congenital contractural arachnodactyly, keratoconus, and probable Marfan syndrome in the same pedigreeThe Journal of Pediatrics, 1981
- Congenital Contractual ArachnodactylyArthritis & Rheumatism, 1979
- The Marfan Syndrome: Diagnosis and ManagementNew England Journal of Medicine, 1979
- Marfan syndrome with contractural arachnodactyly and severe mitral regurgitation in a premature infantThe Journal of Pediatrics, 1978
- The clinical spectrum of congenital contractural arachnodactylyEuropean Journal of Pediatrics, 1974
- "NEW" SYNDROME OF CONGENITAL CONTRACTURAL ARACHNODACTYLY ORIGINALLY DESCRIBED BY MARFAN IN 1896Pediatrics, 1972
- Congenital Contractural ArachnodactylyJournal of Bone and Joint Surgery, 1971