Results 21 to 30 of about 13,759 (208)

Treatment results of teratologic arthrogryposis in a case of Freeman-Sheldon syndrome: A 25-year follow-up

Formosan Journal of Surgery, 2021
Freeman-Sheldon syndrome (FSS) is a very rare genetic disorder, also called “whistling-face syndrome.” Patients with this condition have distinctive facial appearance of small mouth and pursed lips, and skeletal malformations such as talipes equinovarus,
Tsung-Mu Wu, Lin-Shaw Chin
doaj   +1 more source

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   +1 more source

Pediatric Hand Surgery Training in Nicaragua: A Sustainable Model of Surgical Education in a Resource-Poor Environment. [PDF]

, 2017
Recent reports have demonstrated that nearly two-thirds of the world's population do not have access to adequate surgical care, a burden that is borne disproportionately by residents of resource-poor countries.
James, Michelle A, Manske, Mary Claire B, Rios Roque, Jairo J, Zelaya, Gabriel Ramos   +3 more
core   +1 more source

Further supporting evidence for REEP1 phenotypic and allelic heterogeneity. [PDF]

, 2019
Heterozygous mutations in REEP1 (MIM #609139) encoding the receptor expression-enhancing protein 1 (REEP1) are a well-recognized and relatively frequent cause of autosomal dominant hereditary spastic paraplegia (HSP), SPG31.1 REEP1 localizes in the ...
Behnam, M, Houlden, H, Kaiyrzhanov, R, Maroofian, R, Salehi, M, Salpietro, V   +5 more
core   +3 more sources

Mild Phenotype of Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome 1 Caused by a Novel VPS33B Variant

Frontiers in Genetics, 2022
The arthrogryposis, renal dysfunction, and cholestasis syndrome (ARCS) is an autosomal recessive multisystem disease caused by variants in VPS33B or VIPAS39.
Natália Duarte Linhares, Natália Duarte Linhares, Eleonora Druve Tavares Fagundes, Eleonora Druve Tavares Fagundes, Alexandre Rodrigues Ferreira, Alexandre Rodrigues Ferreira, Thaís Costa Nascentes Queiroz, Luiz Roberto da Silva, Sergio D. J. Pena, Sergio D. J. Pena, Sergio D. J. Pena   +10 more
doaj   +1 more source

Schmallenberg virus pathogenesis, tropism and interaction with the innate immune system of the host [PDF]

, 2013
Schmallenberg virus (SBV) is an emerging orthobunyavirus of ruminants associated with outbreaks of congenital malformations in aborted and stillborn animals.
A Bridgen, A Bridgen, A Kohl, AC Lowen, AJ Della-Porta, Alain Kohl, Andrew Shaw, Anna Janowicz, AR Elbers, B Hoffmann, B Xu, CA Evans, Catherine Lamm, Claudio Murgia, CM Southam, CT Walter, D Thomas, DH Cybinski, Esther Schnettler, Eva McGregor, F Arnaud, Friedemann Weber, G Barry, G Blakqori, G Blakqori, G Neumann, Gerald Barry, Ilaria M. Piras, JI Gillespie, JL Farmer, K Kupferschmidt, K Peperkamp, K Terasaki, K Wernike, KE Jones, Kerstin Hahn, KV Goller, LD Rasmussen, M Beer, M Bouloy, M Caporale, M Dominguez, M Palmarini, M Ratinier, M Spiegel, M Varela, Mandy Glass, Marco Caporale, Mariana Varela, Martin Beer, Massimo Palmarini, Melanie McFarlane, MJ Killip, MM Garigliany, MM Garigliany, NR Saunders, OR Causey, P Vialat, PJ Hotez, PT Leisnham, R Muller, RS Azevedo, S Shimshony, SE Randolph, T Ikegami, T Yanase, UJ Buchholz, V Herder, Vanessa Herder, VH Leonard, Wolfgang Baumgärtner, X Shi, Y Ogawa, YK Liao   +73 more
core   +3 more sources

THE USE OF PROLONGED BLOCK OF PLEXUS AXILLARIS IN CHILDREN WITH EXTENSION CONTRACTURES OF THE ELBOWS DUE TO ARTHROGRYPOSIS

Travmatologiâ i Ortopediâ Rossii, 2012
Elbow deformities is one of the most widespread pathologies in patients with arthrogryposis. In the majority of the cases children have extension contractures. Most of the children have limitation of active and passive movements in elbow. The aim of this
D. V. Zabolotskiy, A. G. Baindurashvili, O. E. Agranovich, A. N. Savenkov, S. I. Trofimova   +4 more
doaj   +1 more source

Variable Phenotypes of ZC4H2-Associated Rare Disease in Six Patients [PDF]

Annals of Child Neurology, 2022
Purpose Wieacker-Wolff syndrome is a rare disease caused by X-linked zinc finger C4H2-type containing (ZC4H2) mutations. It is characterized by arthrogryposis multiplex congenita (AMC) and intellectual disability (ID), including impairment of central and
Ji Ye Ahn, Soo Yeon Kim, Byung Chan Lim, Ki Joong Kim, Jong-Hee Chae   +4 more
doaj   +1 more source

Amino Acid Changes at Arginine 204 of Troponin I Result in Increased Calcium Sensitivity of Force Development. [PDF]

, 2016
Mutations in human cardiac troponin I (cTnI) have been associated with restrictive, dilated, and hypertrophic cardiomyopathies. The most commonly occurring residue on cTnI associated with familial hypertrophic cardiomyopathy (FHC) is arginine (R), which ...
Cui, Ziyou, Dewey, Shannamar, Gomes, Aldrin V, Nguyen, Susan, Siu, Rylie   +4 more
core   +2 more sources

Foot deformities and gait deviations in children with arthrogryposis

Journal of Limb Lengthening & Reconstruction, 2019
Objectives: Arthrogryposis multiplex congenita is a congenital condition characterized by joint contractures with resulting foot deformities and gait deviations.
Lucio Perotti, Chris Church, Celina Santiago, Nancy Lennon, John Henley, Kristen Nicholson, Jose Salazar-Torres, Maureen Donohoe, Kathryn Fazio, Freeman Miller, Louise Reid Nichols   +10 more
doaj   +1 more source