刘文晶,袁兆红,尤玉慧,韩启军.幼儿Bardet-Biedl综合征1例并文献复习[J].济宁医学院学报,2021,44(5):378-380 |
幼儿Bardet-Biedl综合征1例并文献复习 |
A case of infant Bardet-Biedl syndrome and literature review |
投稿时间:2021-08-30 |
DOI:10.3969/j.issn.1000-9760.2021.05.017 |
中文关键词: 肥胖;发育迟缓;Bardet-Biedl综合征 |
英文关键词: Obesity;Developmental delay;Bardet-Biedl syndrome |
基金项目:济宁市科技助推新旧动能转换计划项目(2017SMNS007) |
作者 | 单位 | E-mail | 刘文晶 | 济宁医学院附属医院, 济宁 272029 | | 袁兆红 | 济宁医学院附属医院, 济宁 272029 | | 尤玉慧 | 济宁医学院附属医院, 济宁 272029 | | 韩启军 | 济宁医学院附属医院, 济宁 272029 | a887boy@126.com |
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中文摘要: |
Bardet-Biedl综合征(Bardet-Biedl syndrome,BBS)是一种罕见的常染色体隐性纤毛病,其特征为肥胖、轴后多指、肾脏异常、智力发育迟缓、色素性视网膜病变和生殖功能低下。该病发展缓慢,在儿童早期诊断比较罕见,因为只有很少的特征出现在儿童早期。本文报告阐明了一例仅以严重早发性肥胖为特征的BBS的临床、实验室检查及基因检测结果,以提高大家对BBS的认识。 |
英文摘要: |
Bardet-Biedl syndrome(Bardet-Biedl syndrome, BBS) is a rare autosomal recessive ciliopathy characterized by obesity, postaxial polydactylia, renal abnormalities, mental retardation, retinitis pigmentosa, and reproductive dysfunction.The disease develops slowly and is rarely diagnosed in early childhood because few features appear in early childhood.This case report describes the clinical, laboratory and genetic results of a BBS case characterized only by severe early-onset obesity to raise awareness of BBS. |
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