Abstract
The two well-described osteolysis syndromes associated with matrix metalloproteinase-2 deficiency and mutations in the metalloproteinase-2 gene are Torg–Winchester syndrome and nodulosis–arthropathy–osteolysis variant. They are characterized by carpal–tarsal destruction, subcutaneous nodules, and generalized osteoporosis and show autosomal recessive inheritance. Herein, we report two siblings affected with a novel mutation in matrix metalloproteinase 2 gene and discuss their clinical and radiographic findings.
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Gok, F., Crettol, L.M., Alanay, Y. et al. Clinical and radiographic findings in two brothers affected with a novel mutation in matrix metalloproteinase 2 gene. Eur J Pediatr 169, 363–367 (2010). https://doi.org/10.1007/s00431-009-1028-7
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DOI: https://doi.org/10.1007/s00431-009-1028-7