Chondrodystrophies

Martha D Carlson MD PhD (Dr. Carlson of the University of Michigan Medical School has no relevant financial relationships to disclose.)
AHM M Huq MD PhD, editor. (Dr. Huq of Wayne State University has no relevant financial relationships to disclose.)
Originally released February 3, 1994; last updated February 6, 2008; expires February 6, 2011
Notice: This article has expired and is therefore not available for CME credit.

This article includes discussion of chondrodystrophies, chondrodysplasia punctata, chondrodysplasia calcificans congenita, Conradi-Hünermann syndrome, Sheffied type chondrodysplasia punctata, X-linked dominant chondrodysplasia punctata, X-linked recessive chondrodysplasia punctata, and rhizomelic chondrodysplasia punctata. The foregoing terms may include synonyms, similar disorders, variations in usage, and abbreviations.

Historical note and terminology

Patients with radiographic stippling (chondrodysplasia punctata) were first described by Conradi in 1914 and Hünermann in 1931 (Wilson et al 1988). The infantile demise of Conradi's patient suggests that she was affected with severe autosomal recessive disease, whereas the several aborted siblings and longer survival of the Hünermann patient suggests that she had X-linked dominant disease. Ironically, the Conradi-Hünermann eponym is often applied to the milder, autosomal dominant form of chondrodysplasia punctata. Spranger and associates published a landmark article that documented extreme phenotypic and genetic heterogeneity of chondrodysplasia punctata (Spranger et al 1971).

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