Article
Jackson-Weiss syndrome: clinical and radiological findings in a large kindred and exclusion of the gene from 7p21 and 5qter.
American journal of medical genetics - 1 Jun 1994
Adès L C, Mulley J C, Senga I P, Morris L L, David D J, Haan E A
Abstract excerpt
We describe the clinical and radiological manifestations of the Jackson-Weiss syndrome (JWS) in a large South Australian kindred. Radiological abnormalities not previously described in the hands include coned epiphyses, distal and middle phalangeal hypoplasia, and carpal bone malsegmentation. New...
Topics
- Alleles
- Chromosomes, Human, Pair 5
- Chromosomes, Human, Pair 7
- Craniosynostoses
- Female
- Foot Deformities, Congenital
- Genes, Dominant
- Genetic Linkage
- Hand Deformities, Congenital
- Humans
- Male
- Pedigree
- Radiography
- Syndactyly
- Syndrome