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Winchester syndrome: the progression of radiological findings over a 23-year period
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Winchester syndrome: the progression of radiological findings over a 23-year period
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Journal Article
Winchester syndrome: the progression of radiological findings over a 23-year period
2011
Overview
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.
Publisher
Springer-Verlag,Springer,Springer Nature B.V
Subject
Abnormalities, Multiple - diagnostic imaging
/ Biological and medical sciences
/ Bone and Bones - diagnostic imaging
/ Contracture - diagnostic imaging
/ Corneal Opacity - diagnostic imaging
/ Diseases of the osteoarticular system
/ Female
/ Growth Disorders - diagnostic imaging
/ Humans
/ Imaging
/ Investigative techniques, diagnostic techniques (general aspects)
/ Male
/ Medicine
/ Miscellaneous. Osteoarticular involvement in other diseases
/ Osteoarticular system. Muscles
/ Osteolysis - diagnostic imaging
/ Osteoporosis - diagnostic imaging
/ Osteoporosis. Osteomalacia. Paget disease
