Majumdar Utpal, Arya Gaurav, Singh Santosh, Pillai Ajay, Nair Preeti P
Department of Oral and Maxillofacial Surgery, Rishiraj Dental College & Hospital, Bhopal, Madhya Pradesh, India.
BMJ Case Rep. 2012 Apr 23;2012:bcr1220115320. doi: 10.1136/bcr.12.2011.5320.
The Bardet-Biedl syndrome (BBS) is a human genetic disorder with an array of clinical features affecting many body systems. BBS is a pleiotropic disorder with mostly monogenic causes. It is also considered a primary ciliopathy syndrome. It is characterised by obesity, pigmentary retinopathy, polydactyly, mental deficiency and hypogonadism and recently a sixth feature, renal disease, has also been described. Since none of the diverse symptoms of BBS by itself is diagnostic of the disorder and many of the symptoms only become apparent over time, diagnosis of the BBS is often delayed until about 9 years of age when visual problems first appear.
巴德-比德尔综合征（BBS）是一种人类遗传性疾病，具有一系列影响多个身体系统的临床特征。BBS是一种多效性疾病，主要由单基因引起。它也被认为是一种原发性纤毛病综合征。其特征为肥胖、色素性视网膜病变、多指（趾）畸形、智力缺陷和性腺功能减退，最近还描述了第六个特征——肾脏疾病。由于BBS的各种症状本身都不能确诊该疾病，而且许多症状要过一段时间才会显现出来，所以BBS的诊断往往会延迟到大约9岁，即视觉问题首次出现的时候。
