Anticipation in progressive diaphyseal dysplasia

Description: This report suggests that anticipation occurs in progressive diaphyseal dysplasia and widens the disease spectrum of this concept to bone dysplasias. A dynamic mutation with trinucleotide repeat expansion may or may not be the cause of this osteochondrodysplasia of dense bone with unknown pathogenesis. The search for the molecular explanation of this and other rare genetic disorders that cause dense bones could disclose approaches to more common health problems such as osteoporosis. J Med Genet 2000;37:394-396 ( May )