Abbasi Amanullah, Butt Nazish, Sultan Baseer, Munir S M
Ward-7, Jinnah Postgraduate Medical Centre, Karachi.
J Coll Physicians Surg Pak. 2009 Mar;19(3):186-8.
Laurence-Moon-Bardet-Biedl syndrome is a rare, genetically heterogeneous autosomal recessive disorder, characterized by progressive retinal dystrophy, polydactyly, obesity, hypogonadism, mental retardation, and renal dysfunction. Other manifestations include diabetes mellitus, heart disease, hepatic fibrosis and neurological features. Herein, 2 patients with Laurence-Moon-Bardet-Biedl syndrome are described, who had features of persistent hypokalemia and megaloblastic anemia.
劳伦斯-穆恩-巴德-比德尔综合征是一种罕见的、具有遗传异质性的常染色体隐性疾病,其特征为进行性视网膜营养不良、多指(趾)畸形、肥胖、性腺功能减退、智力发育迟缓及肾功能不全。其他表现包括糖尿病、心脏病、肝纤维化及神经学特征。本文描述了2例患有劳伦斯-穆恩-巴德-比德尔综合征的患者,他们具有持续性低钾血症和巨幼细胞贫血的特征。