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Items: 1 to 20 of 360

1.
Early Diagnosis and Management of Arthrogryposis Multiplex Congenita in a Neonate: A Case Study
Astha Khurana, Amar Taksande, Revat J Meshram, SreeHarsha Damam, Chaitanya Kumar Javvaji, Kushal Desai, Ankita Patel, Rahul Khandelwal
Cureus. 2024 May; 16(5): e60729. Published online 2024 May 21. doi: 10.7759/cureus.60729
PMCID:
PMC11187779
AbstractArticlePDF–890K
2.
The experience of caregiving for children with rare musculoskeletal conditions: a qualitative study in arthrogryposis multiplex congenita
R. U. Elekanachi, A. Lajoie, S. Tavukcu, L. M. Snider, N. Dahan-Oliel
Orphanet J Rare Dis. 2024; 19: 235. Published online 2024 Jun 14. doi: 10.1186/s13023-024-03224-8
PMCID:
PMC11179382
AbstractArticlePDF–1.2M
3.
An Unusual Presentation of Membranous Nephropathy in an Adult With Arthrogryposis: A Case Report
Upasana Agrawal, Manush Sondhi, Nitesh Gandhi, Shivani Sharma
Cureus. 2024 Apr; 16(4): e58339. Published online 2024 Apr 15. doi: 10.7759/cureus.58339
PMCID:
PMC11094667
AbstractArticlePDF–672K
4.
A retrospective study on the correction of distal arthrogryposis with a progressive extension brace
Jiateng Zhou, Tong Zhang, Zhibo Wang, Dongdong Li, Xin Wu, Qinyuan Yu, Bin Wang
Front Pediatr. 2024; 12: 1385938. Published online 2024 Apr 29. doi: 10.3389/fped.2024.1385938
PMCID:
PMC11089123
AbstractArticlePDF–15M
5.
Arthrogryposis, renal dysfunction, cholestasis syndrome with a novel mutation in two siblings
Rahiya Rehman, Leslia Gonzalez, Kelsey Kolbe, Mohammed Khurram Faizan, William Brucker, Carolina Cerezo
Clin Case Rep. 2024 May; 12(5): e8853. Published online 2024 May 1. doi: 10.1002/ccr3.8853
PMCID:
PMC11063607
AbstractArticlePDF–980K
6.
Arthrogryposis multiplex congenita causing hypercapnic respiratory failure and airway obstruction in an adult patient
Harshana Bandara, Sathiaruban Sathiyamoorthy, Dinusha Withana, Tharindi Dissanayake, Harshani Athapaththu, Wathsala Gunasinghe
Respirol Case Rep. 2024 Apr; 12(4): e01361. Published online 2024 Apr 23. doi: 10.1002/rcr2.1361
PMCID:
PMC11040175
AbstractArticlePDF–11M
7.
MET is a new confirmed gene responsible for familial distal arthrogryposis
Debora Maffeo, Anna Carrer, Angela Rina, Loredaria Adamo, Caterina Lo Rizzo, Mirella Bruttini, Alessandra Renieri, Francesca Mari
EMBO Mol Med. 2024 Apr; 16(4): 720–722. Published online 2024 Mar 1. doi: 10.1038/s44321-024-00044-y
PMCID:
PMC11018841
AbstractArticlePDF–774K
8.
Bone mineral density in adults with arthrogryposis multiplex congenita: a retrospective cohort analysis
X. Romand, R. Gastaldi, D. Pérennou, A. Baillet, K. Dieterich
Sci Rep. 2024; 14: 8206. Published online 2024 Apr 8. doi: 10.1038/s41598-024-58083-x
PMCID:
PMC11001861
AbstractArticlePDF–1.1M
9.
Bilateral Sprengel Deformities, Mirror Movements Synkinesis, and Arthrogryposis Multiplex Congenita: A Novel Combination
Jojin Jose Chitten, Boblee James
J Orthop Case Rep. 2024 Mar; 14(3): 13–17. Published online 2024 Mar. doi: 10.13107/jocr.2024.v14.i03.4270
PMCID:
PMC10976556
AbstractArticlePDF–5.8M
10.
Multiple Serial Casting for Recurrent Clubfoot in Arthrogryposis Corrects Deformity With Diminishing Returns
Jeffrey M Henstenburg, Nikki Sutliff, Alexander Rompala, Amanda Stutman, Kyrillos M Akhnoukh, Harold J Van Bosse, Sarah B Nossov
Cureus. 2024 Feb; 16(2): e54398. Published online 2024 Feb 18. doi: 10.7759/cureus.54398
PMCID:
PMC10949899
AbstractArticlePDF–446K
11.
Arthrogryposis Multiplex Congenita and the Importance of Orthoses: A Case Report
Filipa Gouveia, Luisa Pinto, Duarte Santos Sousa, João Carvalho, Catarina Aguiar Branco
Cureus. 2024 Feb; 16(2): e53993. Published online 2024 Feb 11. doi: 10.7759/cureus.53993
PMCID:
PMC10933392
AbstractArticlePDF–1.7M
12.
A Case Report: Can Prioritizing Sensory Integration Therapy Help Improve Gross Motor Function in a Rare Case of Neurogenic Arthrogryposis Multiplex Congenita?
Nikita Sawant, Asmita Karajgi
Cureus. 2024 Feb; 16(2): e53965. Published online 2024 Feb 10. doi: 10.7759/cureus.53965
PMCID:
PMC10927163
AbstractArticlePDF–947K
13.
A mutation in F-actin polymerization factor suppresses the distal arthrogryposis type 5 PIEZO2 pathogenic variant in Caenorhabditis elegans
Xiaofei Bai, Harold E. Smith, Luis O. Romero, Briar Bell, Valeria Vásquez, Andy Golden
Development. 2024 Feb 15; 151(4): dev202214. Published online 2024 Feb 13. doi: 10.1242/dev.202214
PMCID:
PMC10911111
AbstractArticle
14.
Effectiveness of the Ponseti method for congenital clubfoot in patients with arthrogryposis: A systematic review and meta-analysis of observational studies
Augusto Cesar Bravin, Gabriel Ferraz Ferreira, Monica Paschoal Nogueira
J Child Orthop. 2024 Feb; 18(1): 72–78. Published online 2023 Dec 29. doi: 10.1177/18632521231214778
PMCID:
PMC10859111
AbstractArticlePDF–1.6M
15.
Case report: Complete paternal isodisomy on chromosome 18 induces methylation changes in PARD6G-AS1 promotor in a case with arthrogryposis
Johanna Moch, Maximilian Radtke, Janina Gburek-Augustat, Maike Karnstedt, Senta Schönnagel, Stephan H. Drukewitz, Laura Pilgram, Julia Hentschel, Isabell Schumann
Front Genet. 2023; 14: 1297754. Published online 2023 Dec 21. doi: 10.3389/fgene.2023.1297754
PMCID:
PMC10768175
AbstractArticlePDF–1.2M
16.
Play with objects in children with arthrogryposis: Effects of intervention with the Playskin Lift™ exoskeletal garment
Iryna Babik, Andrea B. Cunha, Michele A. Lobo
Am J Med Genet C Semin Med Genet. Author manuscript; available in PMC 2023 Dec 22.
Published in final edited form as: Am J Med Genet C Semin Med Genet. 2019 Sep; 181(3): 393–403. Published online 2019 Jun 24. doi: 10.1002/ajmg.c.31719
PMCID:
PMC10740315
AbstractArticlePDF–1.5M
17.
A rare case of arthrogryposis multiplex congenita in a 2-year-old boy case report
Asfia Waseem, Aresha Masood Shah, Abbas Ali Hussain, Sumeet Kumar, Kiran Fatima
SAGE Open Med Case Rep. 2023; 11: 2050313X231200418. Published online 2023 Sep 26. doi: 10.1177/2050313X231200418
PMCID:
PMC10524061
AbstractArticlePDF–1.2M
18.
Case report: identification of one frameshift variant and two in cis non-canonical splice variants of NEB gene in prenatal arthrogryposis
Yuefang Liu, Juan Xu, Qiaoyi Lv, Zhe Liang, Lingling Li, Qiong Pan
Front Genet. 2023; 14: 1220170. Published online 2023 Aug 31. doi: 10.3389/fgene.2023.1220170
PMCID:
PMC10512086
AbstractArticlePDF–2.2M
19.
Homozygous TRPV4 Mutation Broadens the Phenotypic Spectrum of Congenital Spinal Muscular Atrophy and Arthrogryposis: A Case Report
Elyette Lugo, Eric Graulau, Edwardo Ramos Cortes, Simón Carlo, Norman Ramírez
Cureus. 2023 Aug; 15(8): e43413. Published online 2023 Aug 13. doi: 10.7759/cureus.43413
PMCID:
PMC10495693
AbstractArticlePDF–114K
20.
Features of Congenital Arthrogryposis Due to Abnormalities in Collagen Homeostasis, a Scoping Review
Sarah MacKenzie Picker, George Parker, Paul Gissen
Int J Mol Sci. 2023 Sep; 24(17): 13545. Published online 2023 Aug 31. doi: 10.3390/ijms241713545
PMCID:
PMC10487887
AbstractArticlePDF–1.0M

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