
Pycnodysostosis

Перевод pycnodysostosis на русский язык
pycnodysostosis
СуществительноеPycnodysostosis is a rare genetic disorder characterized by brittle bones.
Пикнодизостоз - это редкое генетическое заболевание, характеризующееся хрупкими костями.
Опеределения
pycnodysostosis
СуществительноеA 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.