Melorheostosis in a family with autosomal dominant osteopoikilosis

We describe a Ig-year-old woman with melorheostosis and osteopoikilosis (mi xed sclerosing bone dysplasia). Her sister and mother had osteopoikilosis, but no evidence of melorheostosis. Isolated melorheostosis and melorheostos is with osteopoikilosis are sporadic disorders. Osteopoikilosis is an autos omal dominant trait. Mixed sclerosing bone dysplasia in a family with autos omal dominant osteopoikilosis raises the possibility that the two bone diso rders may be related. This family and that of Butkus et al, [1997: Am J Med Genet 72:43-46] suggest that the melorheostosis could be due to a second m utation at the same locus as that which causes autosomal dominant osteopoik ilosis. (C) 1999 Wiley-Liss, Inc.