JACKSON-WEISS SYNDROME - CLINICAL AND RADIOLOGICAL FINDINGS IN A LARGE KINDRED AND EXCLUSION OF THE GENE FROM 7P21 AND 5QTER
JACKSON-WEISS SYNDROME - CLINICAL AND RADIOLOGICAL FINDINGS IN A LARGE KINDRED AND EXCLUSION OF THE GENE FROM 7P21 AND 5QTER
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DOI：
10.1002/ajmg.1320510208
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发表时间：
1994-06-01
期刊：
影响因子：
--
通讯作者：
HAAN, EA
中科院分区：
文献类型：
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作者：
ADES, LC;MULLAY, JC;HAAN, EA
我们描述了杰克逊-韦斯综合征（JWS）在南澳大利亚州的一个大型家族的临床和放射学表现。以前没有描述过的手部放射学异常包括锥形骨骺、远端和中间指骨发育不全和腕骨分割不良。足部新的放射学发现包括锥形骨骺、拇趾外翻、趾骨、跗舟骨和跟舟融合，以及跖骨融合的均匀缺失。7号染色体短臂上沿着8个标记的连锁缺失排除了JWS和Saethre-Chotzen综合征之间在7 p21的等位性。未检测到与D5 S211的连锁，排除了与另一个最近描述的头并指综合征的等位性，该综合征定位于5 qter。(C)1994 Wiley-Liss，Inc.
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. (C) 1994 Wiley-Liss, Inc.