Adès L C, Mulley J C, Senga I P, Morris L L, David D J, Haan E A
Department of Medical Genetics and Epidemiology, Women's and Children's Hospital, North Adelaide, Australia.
Am J Med Genet. 1994 Jun 1;51(2):121-30. doi: 10.1002/ajmg.1320510208.
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.
我们描述了南澳大利亚一个大家族中杰克逊-韦斯综合征（JWS）的临床和放射学表现。手部以前未描述过的放射学异常包括锥形骨骺、远端和中间指骨发育不全以及腕骨分割异常。足部新的放射学发现包括锥形骨骺、拇外翻、指骨、跗舟骨和跟舟骨融合，以及跖骨融合均缺失。与7号染色体短臂上的8个标记无连锁关系，排除了JWS与7p21处的塞特雷-乔岑综合征之间的等位基因关系。未检测到与D5S211的连锁关系，排除了与另一种最近描述的定位到5qter的头并指综合征的等位基因关系。
