Winchester syndrome: the progression of radiological findings over a 23-year period
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.
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ABSTRACT: The genetic osteolyses are an uncommon group of skeletal disorders in which severe orthopaedic complications can occur. In this article we present the clinical and radiological features of a boy with the Torg-Winchester form of osteolysis and discuss the orthopaedic management of his upper and lower limb deformities. Heritable osteolysis warrants consideration as a possible diagnosis in children presenting with clinical deformity following minimal trauma and radiological evidence of progressive dissolution of bone.12/2012; 12(2):23-27.