Dhulkhed Vithal K, Shetti Akshaya N, Dhulkhed Pavan V
Professor and Head, Department of Anaesthesiology, Krishna Institute of Medical Sciences, Karad, Maharashtra, India.
Assistant professor, Department of Anaesthesiology, Krishna Institute of Medical Sciences, Karad, Maharashtra, India.
Anesth Essays Res. 2013 May-Aug;7(2):276-8. doi: 10.4103/0259-1162.118980.
Laurence-Moon-Biedl Syndrome is primarily a rare, recessively inherited genetic disorder. The cardinal features are polydactyly, obesity and retinitis pigmentosa, mental retardation, genital hypoplasia and cardiac anomalies. This spectrum may extend and may also involve renal anomalies. Here, we report a rare case of 15-year-old boy who was overweight and suffering from Laurence Moon Biedl syndrome scheduled for closure of atrial septal defect.
劳伦斯-穆恩-比德尔综合征主要是一种罕见的隐性遗传性疾病。主要特征包括多指(趾)畸形、肥胖、色素性视网膜炎、智力发育迟缓、生殖器发育不全和心脏异常。这种症状范围可能会扩大,也可能涉及肾脏异常。在此,我们报告一例罕见病例,一名15岁超重男孩患有劳伦斯-穆恩-比德尔综合征,计划进行房间隔缺损封堵术。