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

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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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Conflict of interest

The authors declare that there is no conflict of interest.

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Authors and Affiliations

  1. Department of Radiology, University Hospital Bratislava, Antolska 11, 851 07, Bratislava, Slovak Republic

    Radovan Vanatka

  2. Department of Medical Genetics, Archet 2 Hospital, CHU, Nice, France

    Cécile Rouzier & Jean Claude Lambert

  3. Department of Radiology, Archet 2 Hospital, CHU, Nice, France

    Carole Leroux & Alain Coussement

Authors
  1. Radovan Vanatka
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  2. Cécile Rouzier
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  3. Jean Claude Lambert
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  4. Carole Leroux
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  5. Alain Coussement
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Corresponding author

Correspondence to Radovan Vanatka.

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Vanatka, R., Rouzier, C., Lambert, J.C. et al. Winchester syndrome: the progression of radiological findings over a 23-year period. Skeletal Radiol 40, 347–351 (2011). https://doi.org/10.1007/s00256-010-1033-y

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  • DOI: https://doi.org/10.1007/s00256-010-1033-y

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