Pediatrics, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.
Pediatrics, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India
BMJ Case Rep. 2021 Jan 28;14(1):e236325. doi: 10.1136/bcr-2020-236325.
Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterised by rod-cone dystrophy, obesity, postaxial polydactyly, cognitive impairment, hypogonadism, renal abnormalities, and rarely, laryngeal webs or bifid epiglottis. Most patients present with obesity. Multiple genes are involved in causation of BBS and there is also evidence of triallelic inheritance. We herein report an Asian boy who had weak cry and stridor since birth, and on evaluation was found to have both laryngeal web and bifid epiglottis. Mutation analysis revealed a homozygous variant in BBS10 gene.
Bardet-Biedl 综合征（BBS）是一种罕见的常染色体隐性纤毛病，其特征为 rods-cone 营养不良、肥胖、轴后多指（趾）、认知障碍、性腺功能减退、肾脏异常，偶尔还会出现喉蹼或分叉会厌。大多数患者以肥胖为首发表现。多个基因参与 BBS 的发病，也有三等位基因遗传的证据。本文报道了一名亚洲男孩，他自出生以来哭声微弱且有喘鸣，评估后发现存在喉蹼和分叉会厌。突变分析显示 BBS10 基因存在纯合变异。
