Berardinelli-Seip Syndrome (Congenital Generalized Lipodystrophy)& 757j97h nbsp; & 757j97h nbsp; & 757j97h nbsp; & 757j97h nbsp; & 757j97h nbsp; & 757j97h nbsp; & 757j97h nbsp; & 757j97h nbsp; & 757j97h nbsp; & 757j97h nbsp; & 757j97h nbsp; 140
General: Autosomal recessive; disorder of the hypothalamus.
Ocular: Punctate corneal infiltrations (lipodystrophia corneae).
Clinical: Advanced bone age; dilation of the third ventricle and basal cistern; frequent elevation of growth hormone; severe lipid levels; enlarged liver; diabetes mellitus; hyperpigmentation of axillae and chest wall; phlebomegaly.
Berardinelli W. Undiagnosed endocrinometabolic syndrome: report of 2 cases. J Clin Endocrinol 1954; 14:195.
Geeraets WJ. Ocular Syndromes, 3rd ed. Philadelphia: Lea & Febiger, 1976.
Klein S, et al. Generalized lipodystrophy: in vivo evidence of hypermetabolism and insulin-resistant lipid, glucose and amino acid kinetics. Metabolism 1992; 41:893-896.
Seip M, Trygstad O. Generalized lipodystrophy. Arch Dis Child 1962; 38:447.
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