Facebook is showing information to help you better understand the purpose of a page. It is a type of lipodystophy disorder where the magnitude of fat loss determines the severity of metabolic complications. Congenital generalized lipodystrophy versus berardinelliseip syndrome. Only 250 cases of the condition have been reported, and it is estimated that it occurs in 1 in 10 million people.
I was born in chile in early 80s and i was a normal baby until my first 2 months of life. I am a berardinelli, and not because it is my family name, but because i have the seipberardinelli syndrome. Cardiometabolic abnormalities in patients with berardinelliseip syndrome. Envolvimento cardiaco na lipodistrofia total generalizada. If you have problems viewing pdf files, download the latest version of adobe reader. I am a berardinelli lipodystrophy community rareconnect. Este estudo qualitativo foi desenvolvido com onze interlocutores, sendo nove pessoas vivendo com a sindrome e duas maes. It is a rare disease that is scientifically and socially mostly unknown to many people. Impairment of respiratory muscle strength in berardinelli. Berardinelliseip syndrome is very uncommon, and the present case is particularly rare because it is the only case at least as reported in the. Congenital generalized lipodystrophy also called berardinelli seip congenital lipodystrophy is a rare condition characterized by an almost total lack of fatty adipose tissue in the body and a very muscular appearance. Posteriormente fue detallado por seip, en 1959, en 3 pacientes. Outro ponto relevante do estudo foi o questionamento da sexualidade, principalmente nas mulheres, por ter o seu aspecto.
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