PDF(Pubmed)
Abstract：
We report two patients with musculoskeletal manifestations as part of the Bardet-Biedl syndrome. The first patient (case 1) was born with polydactyly and later diagnosed with coxa vara. He had homozygous pathogenic mutation in the BBS1 gene of the variant c.1645G>T (p.Glu459*). The second patient (case 2) had nyctalopia and progressive vision worsening had osteoarthritis symptoms. He had a heterozygous mutation in the BBS1 gene of the variant c.1169T>G (p.Met390Arg). Although polydactyly is the most prevalent musculoskeletal association in patients with the syndrome, co-management of the musculoskeletal manifestations remains of utmost importance in patients with the syndrome.
摘要：
我们报告了两名肌肉骨骼表现为Bardet-Biedl综合征的患者。第一例患者（病例1）出生时患有多指畸形，后来被诊断患有coxavara。他在变异c.1645G>T的BBS1基因中具有纯合致病性突变（p。Glu459*).第二名患者（病例2）患有夜视，进行性视力恶化有骨关节炎症状。他在变异c.1169T>G的BBS1基因中具有杂合突变（p。Met390Arg）。尽管多指是该综合征患者中最普遍的肌肉骨骼关联，在该综合征患者中，肌肉骨骼表现的共同管理仍然至关重要。
