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Marfan syndrome

One entry found.

Main Entry: Mar·fan syndrome
Pronunciation: \ˈmär-ˌfan-\
Variant(s): or Mar·fan's syndrome \-ˌfanz-\
Function: noun
: a disorder of connective tissue that is inherited as a simple dominant trait, is caused by a defect in the gene controlling the production of fibrillin, and is characterized by abnormal elongation of the long bones and often by ocular and circulatory defects
Mar·fan \mȧr-fäⁿ\ , Antonin Bernard Jean (1858–1942), French pediatrician. Marfan concerned himself with the prevention, diagnosis, and treatment of children's diseases. In 1892 he described spastic paralysis in children with hereditary syphilis. In 1896 he described a syndrome marked by arachnodactyly, ectopia of the crystalline lens, and abnormal flexibility of the joints. The syndrome now bears his name.

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