JACKSON-WEISS SYNDROME - CLINICAL AND RADIOLOGICAL FINDINGS IN A LARGE KINDRED AND EXCLUSION OF THE GENE FROM 7P21 AND 5QTER

We describe the clinical and radiological manifestations of the Jackso n-Weiss syndrome (JWS) in a large South Australian kindred. Radiologic al abnormalities not previously described in the hands include coned e piphyses, distal and middle phalangeal hypoplasia, and carpal bone mal segmentation. New radiological findings in the feet include coned epip hyses, hallux valgus, phalangeal, tarso-navicular and calcaneonavicula r fusions, and uniform absence of metatarsal fusions. Absence of linka ge to eight markers along the short arm of chromosome 7 excluded allel ism between JWS and Saethre-Chotzen syndrome at 7p21. No linkage was d etected to D5S211, excluding allelism to another recently described ce phalosyndactyly syndrome mapping to 5qter. (C) 1994 Wiley-Liss, Inc.