chondrodysplasia punctata

a heterogeneous group of bone dysplasias whose common characteristic is stippling of the epiphyses in infancy. There are a severe autosomal recessive form (rhizomelic dwarfism), an autosomal dominant form (Conradi-HÑŒnermann syndrome), and a milder X-linked form. Called also Conradi disease, dysplasia epiphysealis punctata, hypoplastic fetal chondrodystrophy, and stippled epiphyses.