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Campomelic Dysplasia

"Campomelic Dysplasia" 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 congenital disorder of CHONDROGENESIS and OSTEOGENESIS characterized by hypoplasia of endochondral bones. In most cases there is a curvature of the long bones especially the TIBIA with dimpling of the skin over the bowed areas, malformation of the pelvis and spine, 11 pairs of ribs, hypoplastic scapulae, club feet, micrognathia, CLEFT PALATE, tracheobronchomalacia, and in some patients male-to-female sex reversal (SEX REVERSAL, GONADAL). Most patients die in the neonatal period of respiratory distress. Campomelic dysplasia is associated with haploinsufficiency of the SOX9 gene (SRY-related HMG-box gene 9).


This graph shows the total number of publications written about "Campomelic Dysplasia" by people in Harvard Catalyst Profiles by year, and whether "Campomelic Dysplasia" was a major or minor topic of these publication.
Bar chart showing 1 publications over 1 distinct years, with a maximum of 1 publications in 2011
To see the data from this visualization as text, click here.
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.