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A picnodisostose ou síndrome de Toulouse-Lautrec é uma condição genética muito rara que se estima que afete cerca de 1 em 1,7 milhões de pessoas em todo o mundo. Foi pela primeira vez descrita em 1962 e apenas 200 casos estão descritos na literatura científica até agora.
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.
27 de jan. de 2024 · Named after the famous 19th century French artist Henri de Toulouse-Lautrec, who is believed to have had the disorder, Toulouse-Lautrec syndrome is a rare genetic disease that is estimated...
Em 1965, estes autores concluíram ter sido esta a misteriosa doença que vitimou o famoso pintor francês Henri de Toulouse-Lautrec (1864-1901) (1). Desde então, mais de 150 casos foram descritos em diferentes grupos étnicos.
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 ...
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.
9 de jan. 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.
