MARSHALL-STICKLER PHENOTYPE ASSOCIATED WITH VON-WILLEBRAND DISEASE

We report on 6 individuals from three different kindreds with Marshall -Stickler (MS) phenotype, with characteristic orofacial abnormalities, arthropathy, deafness, and eye findings, all of whom were discovered to have a mild bleeding diathesis and coagulation-study findings consi stent with mild von Willebrand disease (vWD). MS syndrome has been lin ked in some cases to the type II procollagen gene (COL2A1) on chromoso me 12q, and to the collagen XI gene (COL11A2) on chromosome 6. The von Willebrand factor (VWF) is encoded by a 180-Kb gene located on the sh ort arm of chromosome 12. This is the first reported association of th ese two disorders. (C) 1997 Wiley-Liss, Inc.