IVIC Syndrome. Report of a second family
- 1 April 1988
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 29 (4) , 875-881
- https://doi.org/10.1002/ajmg.1320290419
Abstract
The IVIC syndrome derives its name from the Institute Venezolano de Investigaciones Cientìficas, where it was described by Arias et al. [Am JMed Genet 6:25–59, 1980]. We report on several individuals in a family with the IVIC syndrome, the second described in the literature. In this family there are 3 affected individuals in 2 generations. This observation shows that the IVIC syndrome is not a private syndrome, and confirms that it is due to an autosomal dominant mutation.Keywords
This publication has 3 references indexed in Scilit:
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- The IVIC syndrome: A new autosomal dominant complex pleiotropic syndrome with radial ray hypoplasia, hearing impairment, external ophthalmoplegia, and thrombocytopeniaAmerican Journal of Medical Genetics, 1980
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