ALLMedicine™ Arthrogryposis Multiplex Center

Apr 6th, 2021 - Arthrogryposis multiplex congenita (AMC) is characterised by congenital joint contractures in two or more body areas. AMC exhibits wide phenotypic and genetic heterogeneity. Our goals were to improve the genetic diagnosis rates of AMC, to evaluate...

Feb 27th, 2021 - Congenital contractural arachnodactyly (CCA) is a rare autosomal dominant condition caused by mutations in the fibrillin 2 gene (FBN2). The primary clinical symptoms of CCA include multiple flexion contractures, arachnodactyly, dolichostenomelia, ...

Feb 22nd, 2021 - Background: Arthrogryposis multiplex congenita (AMC) is a rare congenital disorder characterized by the occurrence of polyarticular contractures. Temporomandibular disorders (TMD) affect 25% of patients with arthrogryposis. Clinical Presentation: ...

Feb 6th, 2021 - BICD2 (BICD Cargo Adaptor 2, MIM*609797) mutations are associated with severe prenatal-onset forms of spinal muscular atrophy, lower extremity-predominant 2B (SMALED2B MIM 618291) or milder forms with childhood-onset (SMALED2A MIM 615290). Etiopat...

Jan 22nd, 2021 - A 10-year-old boy presented with complaints of abnormal eye movements and face turn since early There was a limitation of adduction in LE with narrowing of palpebral fissure and downshoot characteristic of type 2 Duane Syndrome. He was a known cas...

Apr 6th, 2021 - Arthrogryposis multiplex congenita (AMC) is characterised by congenital joint contractures in two or more body areas. AMC exhibits wide phenotypic and genetic heterogeneity. Our goals were to improve the genetic diagnosis rates of AMC, to evaluate...

Feb 27th, 2021 - Congenital contractural arachnodactyly (CCA) is a rare autosomal dominant condition caused by mutations in the fibrillin 2 gene (FBN2). The primary clinical symptoms of CCA include multiple flexion contractures, arachnodactyly, dolichostenomelia, ...

Feb 22nd, 2021 - Background: Arthrogryposis multiplex congenita (AMC) is a rare congenital disorder characterized by the occurrence of polyarticular contractures. Temporomandibular disorders (TMD) affect 25% of patients with arthrogryposis. Clinical Presentation: ...

Feb 6th, 2021 - BICD2 (BICD Cargo Adaptor 2, MIM*609797) mutations are associated with severe prenatal-onset forms of spinal muscular atrophy, lower extremity-predominant 2B (SMALED2B MIM 618291) or milder forms with childhood-onset (SMALED2A MIM 615290). Etiopat...

Jan 22nd, 2021 - A 10-year-old boy presented with complaints of abnormal eye movements and face turn since early There was a limitation of adduction in LE with narrowing of palpebral fissure and downshoot characteristic of type 2 Duane Syndrome. He was a known cas...

Apr 1st, 2014