EUROPEAN JOURNAL OF PEDIATRICS, vol.169, no.3, pp.363-367, 2010 (SCI-Expanded)
Article / Article
EUROPEAN JOURNAL OF PEDIATRICS
Science Citation Index Expanded (SCI-EXPANDED), Scopus
Osteolysis syndromes, Matrix metalloproteinase 2 gene mutation, Arthropathy, Chronic papilledema, Subcutaneous nodules, IDIOPATHIC MULTICENTRIC OSTEOLYSIS, WINCHESTER-SYNDROME, MMP2 MUTATION, MATRIX-METALLOPROTEINASE-2, NEPHROPATHY, OSTEOBLAST, ARTHRITIS
Acibadem Mehmet Ali Aydinlar University Affiliated:
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.