MMP2 and Torg-Winchester syndrome: At your suggestion, we conducted a new PubMed search and were able to find an article identifying a homozygous mutation in the catalytic domain of the MMP2 gene in two sisters with Winchester syndrome (Rouzier C1, Vanatka R, Bannwarth S, Philip N, Coussement A, Paquis-Flucklinger V, Lambert JC.