Otolaryngologic features of Laurence-Moon-Bardet-Biedl syndrome
Otolaryngologic features of Laurence-Moon-Bardet-Biedl syndrome
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DOI：
10.1053/hn.1999.v120.a83517
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发表时间：
1999-04-01
影响因子：
3.4
通讯作者：
Baugh, RF
中科院分区：
文献类型：
--
作者：
Urben, SL;Baugh, RF
LMBBS是一种罕见的常染色体隐性遗传疾病，其特征为肥胖、多指（趾）畸形、视网膜营养不良、智力低下和性腺功能减退。1-7 Bardet-Biedl综合征是LMBBS的一种形式，包括肾脏异常和可变的多指（趾）畸形和精神发育迟滞。[1]一般来说，与LMBBS相关的特征表达存在很大的差异。1-3估计流行率从瑞士的1/160，000到纽芬兰的1/17，500不等。1，2遗传连锁研究已经证明了3号、11号和16号染色体上的基因座。2
LMBBS is a rare autosomal-recessive disorder characterized by obesity, polydactyly, retinal dystrophy, mental retardation, and hypogonadism. 1-7 Bardet-Biedl syndrome is a form of LMBBS that includes renal abnormalities and the variable presence of polydactyly and mental retardation. 1 In general, there is wide variability in the expression of features associated with LMBBS. 1-3 The estimated prevalence ranges from 1/160,000 in Switzerland to 1/17,500 in Newfoundland. 1, 2 Genetic linkage studies have demonstrated loci on chromosomes 3, 11, and 16. 2