Keskin Mehmet, Atabek M Emre, Kurtoğlu Selim
Department of Pediatrics, Erciyes University, School of Medicine, Kayseri, Turkey.
J Pediatr Endocrinol Metab. 2004 Jun;17(6):913-5. doi: 10.1515/jpem.2004.17.6.914.
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.
巴德-比埃尔综合征(BBS)是一种常染色体隐性疾病,具有广泛的临床特征。主要表现为视锥视杆营养不良(有时称为非典型色素性视网膜炎)、轴后多指(趾)畸形、中心性肥胖、智力发育迟缓、性腺功能减退和肾功能不全。X综合征的临床诊断定义为葡萄糖代谢异常、高血压、高脂血症和肥胖的患者。我们在此报告一名患有BBS并伴有X综合征的15岁女孩。