Article
Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locus.
American journal of human genetics - 1 Dec 1997
Howard T D, Guttmacher A E, McKinnon W, Sharma M, McKusick V A, Jabs E W
Abstract excerpt
We have studied a four-generation family with features of Weyers acrofacial dysostosis, in which the proband has a more severe phenotype, resembling Ellis-van Creveld syndrome. Weyers acrofacial dysostosis is an autosomal dominant condition with dental anomalies, nail dystrophy, postaxial polydac...
Topics
- Abnormalities, Multiple
- Adult
- Bone and Bones
- Chromosomes, Human, Pair 4
- DNA Mutational Analysis
- Ductus Arteriosus, Patent
- Dwarfism
- Ellis-Van Creveld Syndrome
- Female
- Genes, Dominant
- Genes, Recessive
- Haplotypes
- Heart Septal Defects, Ventricular