Giang Vanna, Weber Sarah R, Sundstrom Jeffrey M
Ophthalmology, Penn State College of Medicine, Hershey, Pennsylvania, USA
Ophthalmology, Penn State College of Medicine, Hershey, Pennsylvania, USA.
BMJ Case Rep. 2024 Dec 10;17(12):e261874. doi: 10.1136/bcr-2024-261874.
Bardet-Biedl syndrome (BBS), an autosomal recessive ciliopathy with pleiotropic effects, manifests as a spectrum of anomalies involving multiple genes and affects fewer than 3,000 individuals in the USA. Due to its rarity and phenotypic variability, early diagnosis of BBS poses a significant challenge. Therefore, we aim to shed light on the intrafamilial phenotypic variation of BBS resulting from a variant by delineating the clinical presentation in two siblings.
巴德-比埃尔综合征（BBS）是一种具有多效性的常染色体隐性遗传性纤毛病，表现为一系列涉及多个基因的异常，在美国受影响的个体不到3000人。由于其罕见性和表型变异性，BBS的早期诊断面临重大挑战。因此，我们旨在通过描述两名兄弟姐妹的临床表现，来阐明由一种变异导致的BBS家族内表型变异。
