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Ann Pediatr Endocrinol Metab > Volume 2(2); 1997 > Article
A Case of Berardinelli Lipodystrophy Syndrome.
Jin Soon Hwang, Jung Sub Lim, Se Young Kim, Kye Shik Shim, Sei Won Yang, Jee Suk Yu
Abstract
Berardinelli lipodystrophy syndrome is a rare autosomal recessive disorder, characterized by loss of body fat, muscular hypertrophy, acanthosis nigricans, hepatomegaly, hyperlipidemia, insulin resistant diabetes, and elevated metabolic rate. The mechanism(s) responsible for these abnormalities is not known. We report a forteen-month old girl with Berardinelli Lipodystriphy Syndrome, who had signs above mentioned, with a brief review and its related literatures.
Keywords: Berardinelli Lipodystrophy Syndrome


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