Nodulosis-arthropathy-osteolysis syndrome

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Raviteja Guddeti, M.B.B.S. [2]

Overview

Nodulosis-arthropathy-osteolysis syndrome is an osteolysis syndromes associated with matrix metalloproteinase-2 deficiency and mutations in the metalloproteinase-2 gene. It is characterized by carpal-tarsal destruction, subcutaneous nodules, and generalized osteoporosis and show autosomal recessive inheritance.[1]

  1. Gok F, Crettol LM, Alanay Y; et al. (2010). "Clinical and radiographic findings in two brothers affected with a novel mutation in matrix metalloproteinase 2 gene". Eur. J. Pediatr. 169 (3): 363–7. doi:10.1007/s00431-009-1028-7. PMID 19653001. Unknown parameter |month= ignored (help)