Pycnodysostosis (from Greek: πυκνός (puknos) meaning `dense`, dys (`defective`), and ostosis (`condition of the bone`)), is a lysosomal storage disease of the bone caused by a mutation in the gene that codes the enzyme cathepsin K. ==Genetics== This is an autosomal recessive osteochondrodysplasia that maps to chromosome 1q21. Deficienc...
Found on
http://en.wikipedia.org/wiki/Pycnodysostosis
An inherited disorder of the bone. That causes short stature and abnormally dense brittle bones. Due to a defect in an enzyme: cathepsin k. The french artist toulouse-lautrec is thought to have pycnodysostosis. Also spelled pyknodysostosis with a k. ... (12 Dec 1998) ...
Found on
http://www.encyclo.co.uk/local/20973
Our Pycnodysostosis Main Article provides a comprehensive look at the who, what, when and how of Pycnodysostosis Pycnodysostosis: An inherited disorder of the bone that causes short stature and abnormally dense brittle bones. Due to a defect in an enzyme: cathepsin K. The French artist Toulouse-Lautrec is thought to have pycnodysostosis. Also spell...
Found on
http://www.medterms.com/script/main/art.asp?articlekey=5143
[
n] - a form of dwarfism accompanied by fragile bones and bad teeth
Found on
http://www.webdictionary.co.uk/definition.php?query=pycnodysostosis
pyknodysostosis, pycnodysostosis 1. An inheritable disorder of bone, characterized by a short stature, a large skull with absence of knitting of the anterior frontanel, receding chin, shortness of fingers, and toes, and fragility of bones. Radiographs show an abnormal thickness of bones, which is responsible for the fractures. 2. An autosomal rec...
Found on
http://www.wordinfo.info/words/index/info/view_unit/1805/
noun a form of dwarfism accompanied by fragile bones and bad teeth
Found on
https://www.encyclo.co.uk/local/20974
No exact match found.
