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About 562 results

ALLMedicine™ Arthrogryposis Multiplex Congenita Center

Research & Reviews  279 results

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.
https://doi.org/10.1136/jmedgenet-2020-107595
Journal of Medical Genetics; Laquerriere A, Jaber D et. al.

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...

Mutation analysis and prenatal diagnosis of a family with congenital contractural arach...
https://doi.org/10.1002/mgg3.1638
Molecular Genetics & Genomic Medicine; Hu L, Li H et. al.

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, ...

Physical therapy of temporomandibular disorder in a child with arthrogryposis multiplex...
https://doi.org/10.1080/08869634.2021.1890453
Cranio : the Journal of Craniomandibular Practice; Kulesa-Mrowiecka M, Piech J et. al.

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: ...

Fetal early motor neuron disruption and prenatal molecular diagnosis in a severe BICD2-...
https://doi.org/10.1002/ajmg.a.62111
American Journal of Medical Genetics. Part A; Marchionni E, Agolini E et. al.

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...

A rare association of type 2 Duanes retraction syndrome with arthrogryposis multiplex c...
https://doi.org/10.1080/09273972.2020.1871380
Strabismus Pawar N, Ravindran M et. al.

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...

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Clinicaltrials.gov  281 results

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.
https://doi.org/10.1136/jmedgenet-2020-107595
Journal of Medical Genetics; Laquerriere A, Jaber D et. al.

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...

Mutation analysis and prenatal diagnosis of a family with congenital contractural arach...
https://doi.org/10.1002/mgg3.1638
Molecular Genetics & Genomic Medicine; Hu L, Li H et. al.

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, ...

Physical therapy of temporomandibular disorder in a child with arthrogryposis multiplex...
https://doi.org/10.1080/08869634.2021.1890453
Cranio : the Journal of Craniomandibular Practice; Kulesa-Mrowiecka M, Piech J et. al.

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: ...

Fetal early motor neuron disruption and prenatal molecular diagnosis in a severe BICD2-...
https://doi.org/10.1002/ajmg.a.62111
American Journal of Medical Genetics. Part A; Marchionni E, Agolini E et. al.

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...

A rare association of type 2 Duanes retraction syndrome with arthrogryposis multiplex c...
https://doi.org/10.1080/09273972.2020.1871380
Strabismus Pawar N, Ravindran M et. al.

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...

see more →

Patient Education  1 results see all →