Akademik Veri Yönetim Sistemi
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.17, sa.6, ss.913-915, 2004 (SCI-Expanded)
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.