Results 61 to 70 of about 10,279 (206)

Handwriting speed in left‐handed children with right‐sided neonatal brachial plexus palsy

Developmental Medicine &Child Neurology, EarlyView.
This observational study investigated whether left‐handed children with right‐sided neonatal brachial plexus palsy (NBPP) exhibit reduced handwriting speed compared with typically developing left‐handed peers and explored determinants of any observed differences.
Rani De Pauw, Laura Tack, Anke Van Bladel, Ruth Van der Looven   +3 more
wiley   +1 more source

ARTHROGRYPOSIS MULTIPLEX CONGENITA

, 1970
1. Eighty-two patients out of 114 with arthrogryposis seen at the Hospital for Sick Children, Toronto, during the period of 1950-65 have been studied, and the literature has been reviewed. 2.
N. D. K. Urs, D. A. Gibson
core   +1 more source

Coordinated regulation of PIEZO2 by alternative splicing, post‐translational modification, membrane trafficking and protein partners

The Journal of Physiology, EarlyView.
Abstract figure legend Regulatory mechanisms such as alternative splicing, post‐translational modification, membrane trafficking, and protein interactions control channel gating, membrane abundance, and overall activity of PIEZO2. Proper regulation supports PIEZO2‐dependent proprioceptive, somatosensory, nociceptive, pruriceptive and interoceptive ...
Eunice I. Oribamise, Qinglu Li, Mary G. Garry   +2 more
wiley   +1 more source

The Syndrome Of Perisylvian Polymicrogyria With Congenital Arthrogryposis

, 2010
Background: Bilateral perisylvian polymicrogyria (BPP) is a well-recognized malformation of cortical development commonly associated with epilepsy, cognitive impairment, and oromotor apraxia.
Riva, Daria, Walsh, Christopher A., Partlow, Jennifer, Chitsazzadeh, Vida, Kuester, Helmut, D\u27Arrigo, Stefano, Sahin, Mustafa, Pantaleoni, Chiara, Barry, Brenda J, Barkovich, A James, Duplessis, Adre, Poduri, Annapurna, Garganta, Cheryl, Fedrizzi, Ermellina, Chang, Bernard S, Walsh, Christopher A, Topcu, Meral, Dies, Kira A., Chang, Bernard S., Busse, Claudia, Barkovich, A. James, Barry, Brenda J., Busse, Claudia F., MD, D'Arrigo, Stefano, Dies, Kira A, Gaitanis, John, Küster, Helmut   +26 more
core   +1 more source

Anaesthetic management for bariatric surgery in a patient diagnosed with Arthrogryposis Multiplex Congenita: a case report

Bulletin of the National Research Centre
Background Bariatric surgery may offer hope for long-term weight control in individuals with special needs. Arthrogryposis Multiplex Congenita can complicate anaesthesia management in obesity due to difficult airway, decreased lung function, positioning ...
Hatice Toprak, Şükrü Salih Toprak, Ceyhun Pekin   +2 more
doaj   +1 more source

A muscular dystrophy associated with bi‐allelic LEMD2 variants: Expanding the genotype of nuclear envelopathies

Brain Pathology, Volume 36, Issue 4, July 2026.
Proteomics‐guided exome re‐analysis identifies bi‐allelic variants in the nuclear envelope LEMD2 gene, expanding its phenotypic spectrum. Created in BioRender. Pauper, M. (2026) https://BioRender.com/xamvo92.
Marc Pauper, Heike Kölbel, Iakowos Karakesisoglou, Anne Schänzer, Johann Böhm, Rachel Thompson, Nicolai Kohlschmidt, Bernd Ringel, Gisèle Bonne, Katja Neuhoff, Andrea Gangfuß, Ozge Aksel Kilicarslan, Sergi Beltran Agullo, Andreas Hentschel, Ulrike Schara‐Schmidt, Hanns Lochmüller, Kiran Polavarapu, Andreas Roos   +17 more
wiley   +1 more source

Fetal akinesia deformation sequence with pontocerebellar hypoplasia, and migration and gyration defects

Autopsy and Case Reports, 2021
Fetal akinesia deformation sequence (FADS), or Pena-Shokeir phenotype is a constellation of deformational changes resulting from decreased or absent fetal movement, and include arthrogryposis, and craniofacial and central nervous system anomalies.
Meghan Elizabeth Kapp, Pamela Lyle, Hilary Highfield Nickols   +2 more
doaj  

A Case of Prenatally Diagnosed Arthrogryposis Multiplex Congenita

Düzce Tıp Fakültesi Dergisi
Arthrogryposis multiplex congenita (AMC) is a clinical entity characterized by reduced fetal movements (fetal akinesia), fetal growth restriction (FGR), joint contractures (arthrogryposis), facial anomalies, lung developmental delay (pulmonary hypoplasia)
Seda Atmaca Kılın, Süreyya Sarıdaş Demir, Mustafa Reşorlu, Şenay Bengin Ertem   +3 more
doaj   +1 more source

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1156-1161, May 2026.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston, Carolina de Souza Araujo, Fernanda Araujo Romera, André Luis Ferreira, Érica Trovisco Martins, Carolina Galhós de Aguiar, José Eduardo Mourão Santos, Rodrigo Ragazzini, Daniela Testoni Costa‐Nobre, Ana Claudia Yoshikumi Prestes, Allan Chiaratti de Oliveira, Eduardo Perrone, Débora Gusmão Melo, Anne Caroline Barbosa Teixeira, Antonio Victor Campos Coelho, Caio Robledo D’Angioli Costa Quaio, Carolina Araujo Moreno, Eduardo Perrone, Jose Bandeira do Nascimento Junior, Jessica Grasiela Araujo Espolaor, Joana Rosa Marques Prota, Joao Bosco de Oliveira Filho, Jose Ricardo Magliocco Ceroni, Kelin Chen, Letícia Torres Ferreira, Lucas Santos de Santana, Luciana Souto Mofatto, Luiza do Amaral Virmond, Marina de Franca Basto Silva, Michele Patricia Migliavacca, Renata Moldenhauer Minillo, Renata Yoshiko Yamada, Roberta Sitnik, Tatiana Ferreira de Almeida, Thiago Yoshinaga Tonholo Silva, Vivian Pedigone Cintra   +35 more
wiley   +1 more source

Anaesthetic Management of a Patient with Arthrogryposis Multiplex Congenita: A Case Report

, 2013
Arthrogryposis multiplex congenita first described in 1905, is a rare congenital syndrome affecting 1 in 3000 births. It is characterized by multiple joint contractures found throughout the body and may be associated with multiple congenital anomalies ...
Teena Bansal, Rajmala Jaiswal, Pooja Bihani, Geeta Ahlawat   +3 more
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