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Medical Definition of Chondrodysplasia punctata
1. A heterogeneous group of bone dysplasias, the common character of which is stippling of the epiphyses in infancy. The group includes a severe autosomal recessive form (chondrodysplasia punctata, rhizomelic), an autosomal dominant form (conradi-hunermann syndrome), and a milder x-linked form. Metabolic defects associated with impaired peroxisomes are present only in the rhizomelic form. (12 Dec 1998)
Lexicographical Neighbors of Chondrodysplasia Punctata
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