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Toulouse-Lautrec syndrome is named after the famous 19th century French artist Henri de Toulouse-Lautrec, who is believed to have had the disorder. The syndrome is known clinically as pycnodysostosis (PYCD). PYCD causes brittle bones, as well as abnormalities of the face, hands, and other parts of the body.
Toulouse Lautrec syndrome is a genetic (inherited) recessive bone dysplasia and consistently causes short stature and Osteosclerosis. This is named after the famous French painter Henri de Toulouse-Lautrec who was afflicted with the disease.
What is Toulouse Lautrec Syndrome? Pyknodysostosis is an inherited disease that affects the bones and their formation. It is passed genetically from parent to child. Patterns of the syndrome’s appearance follow typical rules of genetic inheritance. Medical texts describe Pycnodysostosis as Osteoporosis Acro Osteolytic. It is further noted as a recessive bone dysplasia.
The disease consistently causes short stature. The height of adult males with the disease is less than 150 cm (59 in). Adult females with the syndrome are even shorter. The disease is also known as Toulouse-Lautrec Syndrome, after the French artist Henri de Toulouse-Lautrec, who may have had the disease. In 1996, the defective gene responsible for pycnodysostosis was located, offering accurate diagnosis, carrier testing and a more thorough understanding of this disorder.
Like many other genetic diseases, Toulouse Lautrec syndrome derives its name from a famous person who was known or thought to have the condition. Its medical name is pycnodysostosis which literally translates to "defective bone condition".
Pycnodysostosis is perhaps best known as the diagnosis given retrospectively to the late 19th century French artist Henri de Toulouse-Lautrec (portrayed by Jose Ferrer in the 1952 film "Moulin Rouge"). Pycnodysostosis is a genetic (inherited) disease of the bone. Its pattern of inheritance follows the classic rules of genetics (see below).
Fast forward to 1962; a pair of French physicians (Maroteaux and Lamy) described a rare clinical entity (1.7/1 million births) dubbed pycnodysostosis (Greek meaning dense, defective condition of bone) or Toulouse-Lautrec syndrome. Pycnodysostosis is inherited if a child receives a recessive gene for the disease from each parent, an unlikely outcome unless parents are closely related.
View page in TimesMachine. Pycnodysostosis is a recessive disorder, meaning an infant must inherit two mutant copies of the gene, one from the mother and one from the father, to suffer the syndrome. Toulouse-Lautrec was born to an aristocratic family that traced its roots back to Charlemagne and that as often happens among the nobility,...