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About 320 results

ALLMedicine™ Arthrogryposis Multiplex Center

Research & Reviews  127 results

A 7-year old female with arthrogryposis multiplex congenita, Duane retraction syndrome,...
https://doi.org/10.1080/13816810.2021.1923040
Ophthalmic Genetics; Godfrey D, Torres A et. al.

May 6th, 2021 - Background: Duane retraction syndrome and arthrogryposis multiplex congenita have an incidence of approximately 1:1500-1:3000 live births. However, the association of these two entities with a Marcus-Gunn might be a rare and, until now, under-reco...

Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotyp...
https://doi.org/10.1002/ajmg.a.62219
American Journal of Medical Genetics. Part A; Rosano KK, Wegner DJ et. al.

May 2nd, 2021 - Spinal muscular atrophy with congenital bone fractures 2 (SMABF2), a type of arthrogryposis multiplex congenita (AMC), is characterized by congenital joint contractures, prenatal fractures of long bones, and respiratory distress and results from b...

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 7th, 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://www.ncbi.nlm.nih.gov/pmc/articles/PMC8123754
Molecular Genetics & Genomic Medicine; Hu L, Li H et. al.

Feb 28th, 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 23rd, 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: I...

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