Results 21 to 30 of about 8,553 (167)

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
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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
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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
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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
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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
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Biallelic Missense Mutation in the ECEL1 Underlies Distal Arthrogryposis Type 5 (DA5D)

Frontiers in Pediatrics, 2019
Distal arthrogryposis (DA) is a heterogeneous sub-group of arthrogryposis multiplex congenita (AMC), mostly characterized by having congenital contractures affecting hands, wrists, feet, and ankles.
Muhammad Umair, Muhammad Umair, Amjad Khan, Amjad Khan, Amir Hayat, Safdar Abbas, Abdulaziz Asiri, Abdulaziz Asiri, Muhammad Younus, Wajid Amin, Shoaib Nawaz, Shazia Khan, Erum Malik, Majid Alfadhel, Majid Alfadhel, Farooq Ahmad   +15 more
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Distal Arthrogryposis in Newborn: Clinical Case

Вопросы современной педиатрии, 2020
Background. Arthrogryposis is severe congenital musculoskeletal disease with contractures of two or more joints of the lower and/or upper limbs and usually in combination with muscular hypo- or atrophy.Clinical Case Description. Child F. was hospitalized
Vasily P. Gavrilyuk, Yana V. Evseeva, Oleg V. Cherevko, Dmitry A. Severinov   +3 more
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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
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Х-ray anatomical features of dislocated hip in children with arthrogryposis

Travmatologiâ i Ortopediâ Rossii, 2016
The purpose - to identify the Х-ray anatomical features of the dislocated hip in children with arthrogryposis, to compare Х-ray and CT scans of hips in patients with arthrogryposis and DDH. Materials and methods. We examined the 98 X-rays and CT scans of
S. F. Bat’kin, D. V. Barsukov, O. E. Agranovich, M. M. Kamosko   +3 more
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