Bardet-Biedl syndrome with syndrome X: A patient report

Keskin M., Atabek M., Kurtoglu S.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.17, no.6, pp.913-915, 2004 (SCI-Expanded) identifier identifier identifier


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.