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congenital total lipodystrophy

 

Definition: characterized by almost complete lack of subcutaneous fat, accelerated rate of growth and skeletal development during the first 3–4 years of life, muscular hypertrophy, cardiac enlargement, hepatosplenomegaly, acanthosis nigricans, hypertrichosis, renal enlargement, hypertriglyceridemia, and hypermetabolism; autosomal recessive inheritance.

Synonym(s): Berardinelli syndrome, Seip syndrome

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© Copyright 2017 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.
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