Bardet-Biedl syndrome with syndrome X: a patient report.

J Pediatr Endocrinol Metab

Department of Pediatrics, Erciyes University, School of Medicine, Kayseri, Turkey.

Published: June 2004

Bardet-Biedl syndrome (BBS) is an autosomal recessive condition with a wide spectrum of clinical features. The principal manifestations are rod-cone dystrophy (sometimes called atypical retinitis pigmentosa), postaxial polydactyly, central obesity, mental retardation, hypogonadism, and renal dysfunction. The clinical diagnosis of syndrome X defines a patient with abnormal glucose metabolism, hypertension, hyperlipidemia and obesity. We report here a 15 year-old girl with BBS presenting with syndrome X.

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http://dx.doi.org/10.1515/jpem.2004.17.6.914DOI Listing

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