title: Jackson-Weiss syndrome: clinical and radiological findings in a large kindred and exclusion of the gene from 7p21 and 5qter.
abstract: 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 radiological findings in the feet include coned epiphyses, hallux valgus, phalangeal, tarso-navicular and calcaneonavicular fusions, and uniform absence of metatarsal fusions. Absence of linkage to eight markers along the short arm of chromosome 7 excluded allelism between JWS and Saethre-Chotzen syndrome at 7p21. No linkage was detected to D5S211, excluding allelism to another recently described cephalosyndactyly syndrome mapping to 5qter.
authors.affiliation: Department of Medical Genetics and Epidemiology, Women's and Children's Hospital, North Adelaide, Australia.
authors.forename: L C
authors.initials: LC
authors.lastname: Adès
authors.forename: J C
authors.initials: JC
authors.lastname: Mulley
authors.forename: I P
authors.initials: IP
authors.lastname: Senga
authors.forename: L L
authors.initials: LL
authors.lastname: Morris
authors.forename: D J
authors.initials: DJ
authors.lastname: David
authors.forename: E A
authors.initials: EA
authors.lastname: Haan
mesh_terms: D000483:Alleles; D002895:Chromosomes, Human, Pair 5; D002897:Chromosomes, Human, Pair 7; D003398:Craniosynostoses / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D005532:Foot Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics; D005799:Genes, Dominant; D008040:Genetic Linkage; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics; D006801:Humans; D008297:Male; D010375:Pedigree; D011859:Radiography; D013576:Syndactyly / Q000000981:diagnostic imaging / Q000235:genetics*; D013577:Syndrome