%0 Case Reports
%T Musculoskeletal Manifestations in Patients With Bardet-Biedl Syndrome: A Report of Two Cases.
%A Arroyo Gonzalez GM
%A Izquierdo N
%J Cureus
%V 15
%N 7
%D 2023 Jul
%M 37588308
暂无%R 10.7759/cureus.41963
%X 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.