chondrodysplasia punctata

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.

Medical dictionary. 2011.

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