24/10/96
I'm preparing an article on clinical/RX features of otopalatodigital syndrome type 2 and its overlap with the Melnick-Needles osteodysplasty syndrome in the male. Both are rare XL disorders: there are less than 25 detailed cases of OPD2, and only 4 males with the severe (non sporadic) form of MNS in the literature. I have already two families with OPD2 and I am expecting two further ones. I still search collaboration for new OPD2 cases (mainly if unusually severe) and male cases with MN syndrome (those whose mother is clearly affected, and who always present with severe/atypical manifestations). Only anonymized clinical data and clinical pictures are necessary. DNA of our cases (and family) are available for a Genetic Centre who is working on those diseases, and seeking collaboration