Results 1 to 10 of about 8,506 (149)
AMC: Amyoplasia and distal arthrogryposis
Journal of Children's Orthopaedics, 2015 Arthrogryposis multiplex congenita (AMC) is a heterogeneous condition defined as multiple congenital joint contractures in two or more body areas. The common pathogenesis is impaired fetal movements.
Eva Kimber
exaly +2 more sources
Case Report: A novel variant in fibrillin-2 identified in a congenital contractural arachnodactyly family with phenotypic heterogeneity [PDF]
Frontiers in MedicineBackground and objectivesCongenital contractural arachnodactyly (CCA) is a rare autosomal dominant connective tissue disorder, and FBN2 is its only known causative gene.
Nan-Miao Wang +11 more
doaj +2 more sources
Genetic Insights Into Hyaline Fibromatosis Syndrome: A Case Report of an ANTXR2 Mutation Featuring a Rare Variant c.697+1G>A [PDF]
Clinical Case ReportsHyaline fibromatosis syndrome (HFS) is a rare genetic disorder encompassing juvenile hyaline fibromatosis (JHF) and infantile systemic hyalinosis (ISH), caused by mutations in the anthrax toxin receptor 2 gene (ANTXR2).
Shabnam Hajiani Ghotbabadi +3 more
doaj +2 more sources
American Journal of Obstetrics and Gynecology, 2019 Abstract This chapter reviews the incidence, risk factors, genetics, recurrence risk, and epidemiology of arthrogryposis. The most common and clinically recognizable type among the congenital contractures is amyoplasia, and treatment options are improving the quality of life for these patients.
Martha W F, Rac +2 more
openaire +3 more sources
Characterization of a group unrelated patients with arthrogryposis multiplex congenita
Jornal de Pediatria (Versão em Português), 2016 Objective: Arthrogryposis multiplex congenita (AMC) is a relatively rare neuromuscular syndrome, with a prevalence of 1:3000–5000 newborns. In this study, the authors describe the clinical features of a group of 50 unrelated Mexican patients with ...
Margarita Valdés‐Flores +4 more
doaj +5 more sources
Frontiers in Genetics, 2023 Objective: Pathogenic variants in NEK9 (MIM: 609798) have been identified in patients with lethal congenital contracture syndrome 10 (OMIM: 617022) and arthrogryposis, Perthes disease, and upward gaze palsy (APUG and OMIM: 614262).
Fang Liu +3 more
doaj +1 more source
Arthrogryposis multiplex congenita in Aberdeen Angus cattle in Uruguay [PDF]
Pesquisa Veterinária Brasileira, 2020 : Arthrogryposis multiplex congenita is reported for the first time in the Aberdeen Angus (AA) breed in Uruguay. In a commercial herd of 30 purebred Aberdeen Angus cows, two calves with severe musculoskeletal malformations died at birth.
Agustín Romero +2 more
doaj +1 more source
Genetics of Arthrogryposis and Macroglossia in Piemontese Cattle Breed
Animals, 2020 Arthrogryposis and macroglossia are congenital pathologies known in several cattle breeds, including Piemontese. As variations in single genes were identified as responsible for arthrogryposis in some breeds, we decided: (i) to test the hypothesis of a ...
Liliana Di Stasio +5 more
doaj +1 more source
Cervical Stenosis in Adult Arthrogryposis: A Case Report and Review of the Literature
Journal of Neurological Surgery Reports, 2018 Arthrogryposis multiplex congenita is a rare, nonprogressive congenital disorder that describes a constellation of conditions characterized by multiple joint contractures. Spinal pathology and deformity are common; however, the majority of the literature
Allen L. Ho +4 more
doaj +1 more source
An arthrogrypotic medical doctor with cervical kyphosis and thoracic lordoscoliosis
Bone Reports, 2017 Management of spinal deformities in a patient with arthrogryposis can be challenging for spine surgeons. The literature about the accompaniment of scoliosis; the most common spine deformity reported in arthrogryposis, is still poor.
Manouchehr Safdarian, Mahdi Safdarian
doaj +1 more source