Harvard Catalyst Profiles

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Chondrodysplasia Punctata

"Chondrodysplasia Punctata" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

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.


This graph shows the total number of publications written about "Chondrodysplasia Punctata" by people in Harvard Catalyst Profiles by year, and whether "Chondrodysplasia Punctata" was a major or minor topic of these publication.
Bar chart showing 6 publications over 6 distinct years, with a maximum of 1 publications in 1991 and 1996 and 2004 and 2009 and 2010 and 2013
To see the data from this visualization as text, click here.
Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.