Waardenburg syndrome and myelomeningocele in a family.
Open Access
- 1 January 1993
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 30 (1) , 83-84
- https://doi.org/10.1136/jmg.30.1.83
Abstract
We report the first family with Waardenburg syndrome type 1 and myelomeningocele in which more than one subject was affected with both disorders. The possible association is discussed. Prenatal screening for myelomeningocele is suggested for a family with Waardenburg syndrome type 1.Keywords
This publication has 9 references indexed in Scilit:
- Splotch locus mouse mutants: models for neural tube defects and Waardenburg syndrome type I in humans.Journal of Medical Genetics, 1992
- An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndromeNature, 1992
- Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box geneNature, 1992
- Waardenburg syndrome associated with meningomyeloceleAmerican Journal of Medical Genetics, 1992
- Waardenburg syndrome (WS): the analysis of a single family with a WS1 mutation showing linkage to RFLP markers on human chromosome 2q.1991
- Malformation syndromes: a review of mouse/human homology.Journal of Medical Genetics, 1988
- The Waardenburg syndrome.1971
- Mendelian Inheritance in ManPublished by Elsevier ,1966
- The syndrome of Waardenburg.1959