Header Logo
Keywords
Last Name
Institution
Announcement

You can now add alternative names! Click here to add other names that you've published under.

Chondrodysplasia Punctata, Rhizomelic

"Chondrodysplasia Punctata, Rhizomelic" 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.

expand / collapse MeSH information
Definition   |   Details   |   More General Concepts   |   Related Concepts   |   More Specific Concepts
An autosomal recessive form of CHONDRODYSPLASIA PUNCTATA characterized by defective plasmalogen biosynthesis and impaired peroxisomes. Patients have shortened proximal limbs and severely disturbed endochondral bone formation. The metabolic defects associated with the impaired peroxisomes are present only in the rhizomelic form of chondrodysplasia punctata. (From Scriver et al, Metabolic Basis of Inherited Disease, 6th ed, p1497)


expand / collapse publications
Timeline   |   Most Recent
This graph shows the total number of publications written about "Chondrodysplasia Punctata, Rhizomelic" by people in UAMS Profiles by year, and whether "Chondrodysplasia Punctata, Rhizomelic" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
_