Soni N K
Department of Ear, Nose and Throat, Medical College, 334003 Kota, (Rajasthan).
Indian J Otolaryngol Head Neck Surg. 1997 Mar;49(Suppl 1):61-2. doi: 10.1007/BF03021330.
Laurence-Moon-Biedl-Bardet Syndrome is a rare hereditary autosomal recessive disease. It is clinically characterised by a pentad of congenital defects e.g. poly or syndactyly, mental retardation, obesity, hypogenitalism and retinitis pigmentosa. Five cases of the syndrome with additional ENT features are presented. The salient features of the condition are discussed in the light of available literatures.
劳伦斯-穆恩-比德尔-巴德特综合征是一种罕见的常染色体隐性遗传性疾病。其临床特征为先天性缺陷五联征,如多指(趾)畸形或并指(趾)畸形、智力发育迟缓、肥胖、性器官发育不全和色素性视网膜炎。本文报告了5例伴有耳鼻喉科额外特征的该综合征病例。并根据现有文献对该病的显著特征进行了讨论。