Winchester syndrome: The progression of radiological findings over a 23-year period

ArticleinSkeletal Radiology 40(3):347-51 · March 2011with7 Reads
Impact Factor: 1.51 · DOI: 10.1007/s00256-010-1033-y · Source: PubMed

    Abstract

    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.