Abstract
Genetic counselling in the autosomal dominant condition of the Romano-Ward syndrome might be assumed to be relatively straightforward. The problems posed by consanguinity, deafness, and subclinical gene carriers in a pedigree with this condition have caused us to reevaluate this view. The diagnostic and management difficulties which may attend this potentially fatal condition are highlighted by our experience with this family.
Full text
PDF
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- FRASER G. R., FROGGATT P., MURPHY T. GENETICAL ASPECTS OF THE CARDIO-AUDITORY SYNDROME OF JERVELL AND LANGE-NIELSEN (CONGENITAL DEAFNESS AND ELECTROCARDIOGRAPHIC ABNORMALITIES). Ann Hum Genet. 1964 Nov;28:133–157. doi: 10.1111/j.1469-1809.1964.tb00469.x. [DOI] [PubMed] [Google Scholar]
- JERVELL A., LANGE-NIELSEN F. Congenital deaf-mutism, functional heart disease with prolongation of the Q-T interval and sudden death. Am Heart J. 1957 Jul;54(1):59–68. doi: 10.1016/0002-8703(57)90079-0. [DOI] [PubMed] [Google Scholar]
- James T. N. Congenital deafness and cardiac arrhythmias. Am J Cardiol. 1967 May;19(5):627–643. doi: 10.1016/0002-9149(67)90467-5. [DOI] [PubMed] [Google Scholar]
- Keating M., Atkinson D., Dunn C., Timothy K., Vincent G. M., Leppert M. Linkage of a cardiac arrhythmia, the long QT syndrome, and the Harvey ras-1 gene. Science. 1991 May 3;252(5006):704–706. doi: 10.1126/science.1673802. [DOI] [PubMed] [Google Scholar]
- Moss A. J. Prolonged QT-interval syndromes. JAMA. 1986 Dec 5;256(21):2985–2987. [PubMed] [Google Scholar]
- ROMANO C., GEMME G., PONGIGLIONE R. ARITMIE CARDIACHE RARE DELL'ETA' PEDIATRICA. II. ACCESSI SINCOPALI PER FIBRILLAZIONE VENTRICOLARE PAROSSISTICA. (PRESENTAZIONE DEL PRIMO CASO DELLA LETTERATURA PEDIATRICA ITALIANA) Clin Pediatr (Bologna) 1963 Sep;45:656–683. [PubMed] [Google Scholar]
- WARD O. C. A NEW FAMILIAL CARDIAC SYNDROME IN CHILDREN. J Ir Med Assoc. 1964 Apr;54:103–106. [PubMed] [Google Scholar]