Results 1 to 10 of about 13,759 (208)
MET mutation causes muscular dysplasia and arthrogryposis [PDF]
EMBO Molecular Medicine, 2019 Arthrogryposis is a group of phenotypically and genetically heterogeneous disorders characterized by congenital contractures of two or more parts of the body; the pathogenesis and the causative genes of arthrogryposis remain undetermined.
Hang Zhou +19 more
doaj +3 more sources
Arthrogryposis: A Rare Manifestation in Infant of Diabetic Mother [PDF]
Online Journal of Health & Allied Sciences, 2009 Arthrogryposis multiplex congenita is characterized by non-progressive, multiple joint contractures present at birth. The major cause of arthrogryposis is fetal akinesia due to fetal abnormalities like neurogenic, muscle, connective tissue abnormalities ...
Amar M. Taksande +2 more
doaj +1 more source
Biomechanics of foetal movement [PDF]
European Cells & Materials, 2015 Foetal movements commence at seven weeks of gestation, with the foetal movement repertoire including twitches, whole body movements, stretches, isolated limb movements, breathing movements, head and neck movements, jaw movements (including yawning ...
N.C. Nowlan
doaj +5 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
Content validity of mobility measures in arthrogryposis multiplex congenita: engaging clinicians and people with lived experience [PDF]
Frontiers in Rehabilitation SciencesIntroductionLower-extremity impairment is prevalent in children with Arthrogryposis multiplex congenita (AMC), frequently leading to mobility limitations.
Ahlam Zidan +8 more
doaj +2 more sources
Early Results of the Ponseti Method for the Treatment of Clubfoot in Distal Arthrogryposis [PDF]
Journal of Bone and Joint Surgery - Series A, 2008 Noppachart Limpaphayom
exaly +3 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, 2016 OBJECTIVE: Arthrogryposis multiplex congenita 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
Нервно-мышечные болезни, 2023 Distal arthrogryposis is a group of genetically heterogeneous congenital diseases characterized by non-progressive contractures predominantly distal joints of the upper and lower extremities.
I. V. Sharkova +6 more
doaj +1 more source
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