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

Department of Radiology, University Hospital Bratislava, Antolska 11, 851 07, Bratislava, Slovak Republic.
Skeletal Radiology (Impact Factor: 1.51). 03/2011; 40(3):347-51. DOI: 10.1007/s00256-010-1033-y
Source: PubMed


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.

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