Le smagliature della pelle (striae distensae) possono manifestarsi in qualsiasi persona, in particolare a seguito di una crescita rapida durante l’adolescenza, durante la gravidanza o in caso di un importante aumento o calo di peso. Chi soffre di sindrome di Marfan ha una maggiore tendenza a sviluppare smagliature, spesso in giovane età e senza che siano intervenute variazioni di peso. Le smagliature compaiono solitamente in zone del corpo soggette a stress, come le spalle, le anche e la zona lombare.
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Beals Syndrome
Beals syndrome is a disorder of connective tissue. The syndrome was first explained by Beals and Hecht in 1971. Features of Beals syndrome are found throughout the body, especially in large joints. While there is no information on the exact prevalence of Beals syndrome, it is estimated that the incidence (number of new cases within […]
The Role of Genetic Testing in the Diagnosis of Marfan Syndrome
For years, geneticists and cardiologists have taken pride in their ability to identify individuals with Marfan syndrome based on clinical assessment alone, and have minimized a role for genetic testing in the diagnosis. Once the gene FBN1 was found to be the cause of Marfan syndrome, testing was undertaken to determine the role of genetic testing in […]
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