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Toulouse-Lautrec syndrome is a rare genetic syndrome that causes changes in the face, hands, and other parts of the body, as well as brittle bones. There are treatment options for symptoms,...
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. It is also known as PKND and PYCD.
5 de nov. de 2020 · Pycnodysostosis is also sometimes referred to as "Toulouse-Lautrec syndrome," after the French artist Henri de Toulouse-Lautrec (1864-1901), who was retrospectively thought to have this condition based on several phenotypic features of the disorder including short stature, parental consanguinity, facial dysmorphism, frequent ...
- Shannon LeBlanc, Ravi Savarirayan
- 2023/04/06
Pycnodysostosis or Maroteaux-Lamy syndrome is a genotypic bone disorder, with autosomal recessive inheritance, individualized by Lamy and Maroteaux in 1962. It is characterized by diffuse condensation of the skeleton with thickening of the cortex and narrowing of the medullary cavity.
- Konstantinos Markatos, Andreas F. Mavrogenis, Marianna Karamanou, Georgios Androutsos
- 2018
5 de nov. de 2023 · Pyknodysostosis, (alternatively spelled pycnodysostosis) also known as osteopetrosis acro-osteolytica or Toulouse-Lautrec syndrome, is a rare autosomal recessive bone dysplasia, characterized by osteosclerosis and short stature.
25 de ene. de 2017 · Disease Overview. Summary. Pycnodysostosis is a rare genetic disorder characterized by distinctive facial features and skeletal malformations. Affected individuals may have osteosclerosis, a condition characterized by abnormal hardening and increased density of bone.
9 de ene. de 2021 · More recently, this constellation of signs has been related to pycnodysostosis, sometimes known as Toulouse-Lautrec Syndrome. Pycnodysostosis is related to cathepsin K osteoclasts deficiency, leading to osteosclerosis, short stature, and dysmorphic face features.
