Results 11 to 20 of about 10,279 (206)

Arthrogryposis with cystic hygroma: A case report

Middle East Fertility Society Journal, 2012
Arthrogryposis, or arthrogryposis multiplex congenita (AMC), comprises non progressive conditions characterized by multiple joint contractures found throughout the body .Cystic hygroma are caused by a delay or absence of the communication between the ...
Mohammed Khairy Ali, Ahmed Y. Abdelbadee, Sherif A. Shazly   +2 more
doaj   +2 more sources

MET mutation causes muscular dysplasia and arthrogryposis

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, Chengjie Lian, Tingting Wang, Xiaoming Yang, Caixia Xu, Deying Su, Shuhui Zheng, Xiangyu Huang, Zhiheng Liao, Taifeng Zhou, Xianjian Qiu, Yuyu Chen, Bo Gao, Yongyong Li, Xudong Wang, Guoling You, Qihua Fu, Christina Gurnett, Dongsheng Huang, Peiqiang Su   +19 more
doaj   +2 more sources

THE ELBOW IN ARTHROGRYPOSIS [PDF]

The Journal of Bone and Joint Surgery. British volume, 1973
1. The possibilities in the treatment of the elbow in arthrogryposis are discussed. 2. The role of tricepsplasty to gain movement, and of triceps transfer to obtain power are outlined and the results obtained in the surgical treatment of twenty-three elbows are analysed.
Peter F. Williams
openaire   +3 more sources

Arthrogryposis: A Rare Manifestation in Infant of Diabetic Mother

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, KY Vilhekar, Arvind Kumar   +2 more
doaj   +1 more source

Biallelic MYH3 Variants Cause Distal Arthrogryposis in Compound Heterozygosity and a Subclinical Phenotype in Simple Heterozygosity. Codominance or Recessive Inheritance? [PDF]

Clin Genet
A nuclear family affected by distal arthrogryposis with novel biallelic MYH3 variants, which at the heterozygous state yield a subclinical phenotype, highlighting the complexity of MYH3‐related disorders and their inheritance modes. ABSTRACT Distal arthrogryposis constitutes a highly heterogeneous group of disorders with a critical need for clear ...
Zgheib O, Rio-Frio T, Guipponi M, Nouspikel T, Fokstuen S, Abramowicz M, Khau Van Kien P.   +6 more
europepmc   +2 more sources

Psychometric properties of functional mobility outcome measures in children with arthrogryposis multiplex congenita. [PDF]

Dev Med Child Neurol
The scores of the Functional Mobility Scale, Gillette Functional Assessment Questionnaire, Functional Independence Measure for Children, and Patient‐Reported Outcomes Measurement Information System showed robust construct validity. The MID values reported in this study provide clinicians and researchers with evidence‐based benchmarks for assessing and ...
Zidan A, Snider L, Rampakakis E, Hamdy R, Rauch F, Dahan-Oliel N.   +5 more
europepmc   +2 more sources

causes relatively mild arthrogryposis

, 2021
Arthrogryposis describes the presence of multiple joint-contractures. Clinical severity of this phenotype is variable, and more than 400 causative genes have been proposed.
Frédéric Masclaux, Abramowicz, Marc, Russia Ha‐Vinh Leuchter, Eva Hammar, Michel Guipponi, Siv Fokstuen, Fokstuen, Siv, Frédérique Sloan‐Bena, Lemmens, Laure, Stathaki, Elissavet, Varvagiannis, Konstantinos, Konstantinos Varvagiannis, Jean‐Louis Blouin, Extermann, Philippe, Blouin, Jean-Louis, Caterina Marconi, Laure Lemmens, Masclaux, Frédéric, Elissavet Stathaki, Marconi, Caroline Baya Catherine, Francesca Mattioli, Sloan Bena, Frédérique, Sacha Laurent, Fluss, Joel Victor, Mendez, Purificacion, Vannier, Anne, Marc Abramowicz, Joël Fluss, Purificacion Mendez, Hammar Bouveret, Eva, Philippe Extermann, Guipponi, Michel, Ha Vinh Leuchter, Elisa Russia Tuyet Mai, Mattioli, Francesca, Laurent, Sacha, Anne Vannier   +35 more
core   +1 more source

Antibodies to acetylcholine receptor in parous women with myasthenia: evidence for immunization by fetal antigen [PDF]

, 2002
The weakness in myasthenia gravis (MG) is mediated by autoantibodies against adult muscle acetylcholine receptors (AChR) at the neuromuscular junction; most of these antibodies also bind to fetal AChR, which is present in the thymus.
Wilcox, Nick, Matthews, I, Stott, David, Ledwidge, S, Vincent, Angela, Willcox, N, Beeson, David, Vincent, A, Sims, G, Stott, D, Matthews, Ian, Sims, Gary, Ledwidge, Serena, Beeson, D   +13 more
core   +1 more source

Test–retest reliability for performance-based outcome measures among individuals with arthrogryposis multiplex congenita

BMC Musculoskeletal Disorders, 2022
Background Most individuals with arthrogryposis multiplex congenita, a rare condition characterized by joint contractures in ≥ 2 body regions, have foot and ankle involvement leading to compromised gait and balance.
Jaclyn Megan Sions, Maureen Donohoe, Emma Haldane Beisheim-Ryan, Ryan Todd Pohlig, Tracy Michele Shank, Louise Reid Nichols   +5 more
doaj   +1 more source

The Application of Three-dimensional Ultrasonography in the Prenatal Diagnosis of Arthrogryposis

Taiwanese Journal of Obstetrics & Gynecology, 2008
Summary: Objective: To present the application of three-dimensional (3D) ultrasonography in the early prenatal diagnosis of fetal arthrogryposis. Case Report: A 26-year-old multipara had a fetus with anomalies of the limbs as shown by conventional ...
I-Wen Lin, Ho-Yen Chueh, Shuenn-Dyh Chang, Po-Jen Cheng   +3 more
doaj   +1 more source