{Reference Type}: Case Reports
{Title}: Musculoskeletal Manifestations in Patients With Bardet-Biedl Syndrome: A Report of Two Cases.
{Author}: Arroyo Gonzalez GM;Izquierdo N;
{Journal}: Cureus
{Volume}: 15
{Issue}: 7
{Year}: 2023 Jul
暂无{DOI}: 10.7759/cureus.41963
{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.