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Pycnodysostosis

ru

Translation of "pycnodysostosis" into Russian

pycnodysostosis
Noun
raiting
UK
/ˌpɪk.nəʊ.dɪs.ɒsˈtəʊ.sɪs/
US
/ˌpɪk.nəʊ.dɪs.ɑːsˈtoʊ.sɪs/
pycnodysostosis
pycnodysostoses pl
Pycnodysostosis is a rare genetic disorder characterized by brittle bones.
Пикнодизостоз - это редкое генетическое заболевание, характеризующееся хрупкими костями.

Definitions

pycnodysostosis
Noun
raiting
UK
/ˌpɪk.nəʊ.dɪs.ɒsˈtəʊ.sɪs/
US
/ˌpɪk.nəʊ.dɪs.ɑːsˈtoʊ.sɪs/
A rare genetic disorder characterized by short stature, brittle bones, and other skeletal abnormalities due to a deficiency of the enzyme cathepsin K.
The patient was diagnosed with pycnodysostosis after presenting with frequent bone fractures and dental abnormalities.
pycnodysostosis
Adjective
raiting
UK
/ˌpɪk.nəʊ.dɪs.ɒsˈtəʊ.sɪs/
US
/ˌpɪk.nəʊ.dɪs.ɑːsˈtoʊ.sɪs/
Relating to or characteristic of the genetic disorder pycnodysostosis.
The study focused on pycnodysostosis skeletal features.