Department of Radiology, University Hospital Bratislava, Antolska 11, 851 07, Bratislava, Slovak Republic.
Skeletal Radiol. 2011 Mar;40(3):347-51. doi: 10.1007/s00256-010-1033-y. Epub 2010 Sep 24.
Winchester syndrome (WS) is a rare autosomal recessive syndrome resulting in multicentric osteolysis. Only a few cases of WS have been described in the literature worldwide. It has recently been shown to be caused by mutation in the gene encoding matrix metalloproteinase-2 (MMP2). We report a patient affected by WS with a proven mutation of the MMP2 gene and describe the progression of radiological findings over a 23-year period. To our knowledge there is no comparable article concerning the WS in the literature.
温彻斯特综合征（WS）是一种罕见的常染色体隐性遗传综合征，导致多中心溶骨性病变。目前全世界仅有少数 WS 病例被报道。该疾病最近被证实是由编码基质金属蛋白酶-2（MMP2）的基因突变引起的。我们报告了一例 WS 患者，其 MMP2 基因突变得到了证实，并描述了 23 年来放射学表现的进展情况。据我们所知，目前尚无关于 WS 的类似文章。
