Winchester syndrome: the progression of radiological findings over a 23-year period.
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.
Vanatka
Radovan
R
Department of Radiology, University Hospital Bratislava, Antolska 11, 851 07, Bratislava, Slovak Republic. vanatka@yahoo.com
Rouzier
Cécile
C
Lambert
Jean Claude
JC
Leroux
Carole
C
Coussement
Alain
A
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging; D001842:Bone and Bones / Q000000981:diagnostic imaging*; D003286:Contracture / Q000000981:diagnostic imaging; D003318:Corneal Opacity / Q000000981:diagnostic imaging; D018450:Disease Progression; D005260:Female; D006130:Growth Disorders / Q000000981:diagnostic imaging; D006801:Humans; D008297:Male; D010014:Osteolysis / Q000000981:diagnostic imaging*; D010024:Osteoporosis / Q000000981:diagnostic imaging; D011859:Radiography; D055815:Young Adult