Results 21 to 30 of about 10,279 (206)

A spectrum of clinical severity of recessive titinopathies in prenatal

Frontiers in Genetics, 2023
Variants in TTN are associated with a broad range of clinical phenotypes, from dominant adult-onset dilated cardiomyopathy to recessive infantile-onset myopathy. However, few foetal cases have been reported for multiple reasons.
Yiming Qi, Yiming Qi, Xueqi Ji, Xueqi Ji, Hongke Ding, Hongke Ding, Yunan Wang, Yunan Wang, Xin Liu, Yan Zhang, Aihua Yin, Aihua Yin   +11 more
doaj   +1 more source

Ponseti Casting vs. Soft Tissue Release for the Initial Treatment of Non-idiopathic Clubfoot

Frontiers in Surgery, 2021
Purpose: Ponseti casting has universally been accepted as the gold standard for treatment of idiopathic clubfoot. Conversely, primary treatment for non-idiopathic clubfoot has not been established.
Jonathan Abraham, Jon Cooper Wall, Michel Diab, Cody Beaver   +3 more
doaj   +1 more source

Case report: Identification of novel fibrillin-2 variants impacting disulfide bond and causing congenital contractural arachnodactyly

Frontiers in Genetics, 2023
Background: Congenital contractural arachnodactyly (CCA) is an autosomal dominant connective tissue disorder with clinical features of arthrogryposis, arachnodactyly, crumpled ears, scoliosis, and muscular hypoplasia. The heterozygous pathogenic variants
An-Lei Li, An-Lei Li, Ji-Qiang He, Ji-Qiang He, Lei Zeng, Lei Zeng, Yi-Qiao Hu, Yi-Qiao Hu, Yi-Qiao Hu, Min Wang, Min Wang, Jie-Yi Long, Si-Hua Chang, Jie-Yuan Jin, Jie-Yuan Jin, Jie-Yuan Jin, Rong Xiang, Rong Xiang, Rong Xiang, Rong Xiang   +19 more
doaj   +1 more source

Evaluation of Knee Position Sense in Children with Motor Disabilities and Children with Typical Development: A Cross-Sectional Study

Children, 2023
Background: In children with motor disabilities, knee position during walking is often of concern in rehabilitation. This study aimed to investigate knee joint position sense. Thirty-seven children with Cerebral Palsy (CP), 21 with Myelomeningocele (MMC),
Åsa Bartonek, Marie Eriksson, Annika Ericson, Mikael Reimeringer, Cecilia Lidbeck   +4 more
doaj   +1 more source

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

A novel Xp11.22–22.33 deletion suggesting a possible mechanism of congenital cervical spinal muscular atrophy

Molecular Genetics & Genomic Medicine, 2021
Background Congenital cervical spinal muscular atrophy (CCSMA) is a rare, nonprogressive, neurogenic disorder characterized by symmetric arthrogryposis and motor deficits mainly confined to upper extremities. Since its first proposal by Darwish et al. 39 
Jingwei Liu, Kelai Wang, Baomin Li, Xiaofan Yang   +3 more
doaj   +1 more source

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

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

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

FIRST EXPERIENCE OF TRANSVERTEBRAL MICROPOLARIZATION OF THE SPINAL CORD IN THE COMPLEX TREATMENT OF UPPER LIMBS DEFORMITIES IN PATIENTS WITH ARTHROGRYPOSIS

Travmatologiâ i Ortopediâ Rossii, 2012
From 2010 till 2011 transvertebral micropolarization of the spinal cord was applied in 14 patients with arthrogryposis and upper limb deformities in the department of arthrogryposis of the Turner Scientific and Research Institute for Children's ...
V. Y. Rozhdestvenskiy, O. E. Agranovich, J. L. Soboleva, S. I. Trofimova   +3 more
doaj   +1 more source