• Pycnodysostosis is a skeletal dysplasia characterized by short stature, generalized osteosclerosis, acro-osteolysis, and recognizable facial features. (bvsalud.org)
  • Born into the aristocracy , Toulouse-Lautrec broke both his legs around the time of his adolescence and, due to the rare condition pycnodysostosis , was very short as an adult due to his undersized legs. (sartle.com)
  • Combining genetic and biochemical testing to deliver a quick and highly accurate multiomic diagnosis of rare metabolic disorders. (centogene.com)