Research & Literature

Developmental myosins: expression patterns and functional significance.

Schiaffino S, Rossi AC, Smerdu V, et al.

Skeletal muscle 2015; (5()):22 doi:10.1186/s13395-015-0046-6.

Characterization of a group unrelated patients with arthrogryposis multiplex congenita.

Valdés-Flores M, Casas-Avila L, Hernández-Zamora E, et al.

Jornal de pediatria 2016; (92(1)):58-64.

Arthrogryposis multiplex congenita-an update.

Møller-Madsen B

Journal of children's orthopaedics 2015; (9(6)):425-6 doi:10.1007/s11832-015-0688-2.

Long-term outcome for patients with arthrogryposis multiplex congenita.

Dubousset J, Guillaumat M

Journal of children's orthopaedics 2015; (9(6)):449-58 doi:10.1007/s11832-015-0692-6.

AMC: amyoplasia and distal arthrogryposis.

Kimber E

Journal of children's orthopaedics 2015; (9(6)):427-32 doi:10.1007/s11832-015-0689-1.

The effectiveness of the Ponseti method for treating clubfoot associated with arthrogryposis: up to 8 years follow-up.

Matar HE, Beirne P, Garg N

Journal of children's orthopaedics 2016; (10(1)):15-8 doi:10.1007/s11832-016-0712-1.

Congenital Zika syndrome with arthrogryposis: retrospective case series study.

van der Linden V, Filho EL, Lins OG, et al.

BMJ (Clinical research ed.) 2016; (354()):i3899 doi:10.1136/bmj.i3899.

Genetics and Classifications.

Hall JG, Kimber E, van Bosse HJP

Journal of pediatric orthopedics 2017; (37 Suppl 1()):S4-S8 doi:10.1097/BPO.0000000000000997.

Treatment of the Upper Extremity Contracture/Deformities.

Oishi SN, Agranovich O, Pajardi GE, et al.

Journal of pediatric orthopedics 2017; (37 Suppl 1()):S9-S15 doi:10.1097/BPO.0000000000001002.

Treatment of Scoliosis Associated With Arthrogryposis Multiplex Congenita.

Komolkin I, Ulrich EV, Agranovich OE, van Bosse HJP

Journal of pediatric orthopedics 2017; (37 Suppl 1()):S24-S26 doi:10.1097/BPO.0000000000000993.

Is bipolar latissimus dorsi transfer a reliable option to restore elbow flexion in children with arthrogryposis? A review of 13 tendon transfers.

Zargarbashi R, Nabian MH, Werthel JD, Valenti P

Journal of shoulder and elbow surgery 2017; (26(11)):2004-2009 doi:10.1016/j.jse.2017.04.002.

Physical functioning and activities of daily living in adults with amyoplasia, the most common form of arthrogryposis. A cross-sectional study.

Steen U, Wekre LL, Vøllestad NK

Disability and rehabilitation 2018; (40(23)):2767-2779 doi:10.1080/09638288.2017.1357211.

Disability in adults with arthrogryposis is severe, partly invisible, and varies by genotype.

Dai S, Dieterich K, Jaeger M, et al.

Neurology 2018; (90(18)):e1596-e1604 doi:10.1212/WNL.0000000000005418.

Quality of life, satisfaction with life, and functional mobility of young adults with arthrogryposis after leaving pediatric care.

Altiok H, Flanagan A, Krzak JJ, Hassani S

American journal of medical genetics. Part C, Seminars in medical genetics 2019; (181(3)):461-468 doi:10.1002/ajmg.c.31717.

Classification of arthrogryposis.

Hall JG, Kimber E, Dieterich K

American journal of medical genetics. Part C, Seminars in medical genetics 2019; (181(3)):300-303 doi:10.1002/ajmg.c.31716.

International multidisciplinary collaboration toward an annotated definition of arthrogryposis multiplex congenita.

Dahan-Oliel N, Cachecho S, Barnes D, et al.

American journal of medical genetics. Part C, Seminars in medical genetics 2019; (181(3)):288-299 doi:10.1002/ajmg.c.31721.

Pain among children and adults living with arthrogryposis multiplex congenita: A scoping review.

Cirillo A, Collins J, Sawatzky B, et al.

American journal of medical genetics. Part C, Seminars in medical genetics 2019; (181(3)):436-453 doi:10.1002/ajmg.c.31725.

The diagnostic workup in a patient with AMC: Overview of the clinical evaluation and paraclinical analyses with review of the literature.

Dieterich K, Le Tanno P, Kimber E, et al.

American journal of medical genetics. Part C, Seminars in medical genetics 2019; (181(3)):337-344 doi:10.1002/ajmg.c.31730.

Gene ontology analysis of arthrogryposis (multiple congenital contractures).

Kiefer J, Hall JG

American journal of medical genetics. Part C, Seminars in medical genetics 2019; (181(3)):310-326 doi:10.1002/ajmg.c.31733.

Collaborating to advance interdisciplinary care for individuals with arthrogryposis.

Dahan-Oliel N, Hall JG

American journal of medical genetics. Part C, Seminars in medical genetics 2019; (181(3)):273-276 doi:10.1002/ajmg.c.31741.

Early open reduction of dislocated hips using a modified Smith-Petersen approach in arthrogyposis multiplex congenita.

Miao M, Cai H, Wang Z, et al.

BMC musculoskeletal disorders 2020; (21(1)):144 doi:10.1186/s12891-020-3173-0.

Arthrogryposis Multiplex Congenita.

Langston S, Chu A

Pediatric annals 2020; (49(7)):e299-e304 doi:10.3928/19382359-20200624-01.

Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics.

Ravenscroft G, Clayton JS, Faiz F, et al.

Journal of medical genetics 2021; (58(9)):609-618 doi:10.1136/jmedgenet-2020-106901.

Ponseti Idiopathic and Nonidiopathic Clubfoot Correction With Secondary Surgeries.

Ishizuka T, Hung YY, Weintraub MR, et al.

The Journal of foot and ankle surgery : official publication of the American College of Foot and Ankle Surgeons 2021; (60(4)):742-746 doi:10.1053/j.jfas.2020.09.020.

Biallelic Pathogenic Variants in TNNT3 Associated With Congenital Myopathy.

Calame DG, Fatih J, Herman I, et al.

Neurology. Genetics 2021; (7(3)):e589 doi:10.1212/NXG.0000000000000589.

Postnatal Diagnostic Workup in Children With Arthrogryposis: A Series of 82 Patients.

Chareyre J, Neuraz A, Badina A, et al.

Journal of child neurology 2021; (36(12)):1071-1077 doi:10.1177/08830738211022972.

The distal arthrogryposis-linked p.R63C variant promotes the stability and nuclear accumulation of TNNT3.

Lu J, Li H, Zhang H, et al.

Journal of clinical laboratory analysis 2021; (35(12)):e24089 doi:10.1002/jcla.24089.

Psychosocial wellbeing among children and adults with arthrogryposis: a scoping review.

Cachecho S, Boruff J, Wong T, et al.

Health and quality of life outcomes 2021; (19(1)):263 doi:10.1186/s12955-021-01896-5.

Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis.

Pollazzon M, Caraffi SG, Faccioli S, et al.

Genes 2021; (13(1)) doi:10.3390/genes13010029.

Arthrogryposis multiplex congenita with maxillofacial involvement: a case report.

Cirillo S, Regge D, Garagiola U, et al.

Maxillofacial plastic and reconstructive surgery 2023; (45(1)):10 doi:10.1186/s40902-023-00378-6.

The emerging spectrum of fetal acetylcholine receptor antibody-related disorders (FARAD).

Allen NM, O'Rahelly M, Eymard B, et al.

Brain : a journal of neurology 2023; (146(10)):4233-4246 doi:10.1093/brain/awad153.

Rehabilitation in Patients Diagnosed with Arthrogryposis Multiplex Congenita: A Systematic Review.

García Aguilar CE, García-Muñoz C, Carmona-Barrientos I, et al.

Children (Basel, Switzerland) 2023; (10(5)) doi:10.3390/children10050768.

Spinal Fusion in Patients With Classic Amyoplasia and General Arthrogryposis.

Riepen D, Lachmann EE, Wahlig B, et al.

Journal of pediatric orthopedics 2023; (43(9)):e751-e756 doi:10.1097/BPO.0000000000002483.

Biallelic truncating TTN variants in M-band encoding exons cause a fetal lethal titinopathy.

Li MW, Li F, Cheng ZX, et al.

Prenatal diagnosis 2024; (44(1)):81-87 doi:10.1002/pd.6491.

Common data elements for arthrogryposis multiplex congenita: An international framework.

Nematollahi S, Dieterich K, Filges I, et al.

Developmental medicine and child neurology 2024; (66(10)):1340-1347 doi:10.1111/dmcn.15898.

Bi-allelic variants in MYH3 cause recessively-inherited arthrogryposis.

Morali B, Miranda V, Raelson J, et al.

Clinical genetics 2024; (106(4)):483-487 doi:10.1111/cge.14570.

Health-related quality of life in 205 children with arthrogryposis multiplex congenita.

Nematollahi S, Rampakakis E, Amara M, et al.

Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation 2025; (34(1)):247-260 doi:10.1007/s11136-024-03808-8.

Maintained gait in persons with arthrogryposis from childhood to adulthood.

Bartonek Å, Reimeringer M, Eriksson M

BMC musculoskeletal disorders 2025; (26(1)):141 doi:10.1186/s12891-025-08366-9.

Staged Correction of Hip Contractures, Severe Knee Flexion, and Clubfoot in Arthrogryposis: Enabling Assisted Ambulation.

Galán-Olleros M, García-Fernández J, Figueroa-Gatica MJ, et al.

JBJS case connector 2025; (15(1)) doi:10.2106/JBJS.CC.24.00516.

Prenatal Diagnosis and Prognostic Factors in Fetuses With Arthrogryposis Multiplex Congenita-A Systematic Review.

Leao MB, Brock MF, Leao JRDT, et al.

Journal of clinical ultrasound : JCU 2025; (53(5)):1131-1139 doi:10.1002/jcu.23983.

Open Reduction of Hip Dislocation Is Associated with Higher Rates of Proximal Femoral Growth Disturbance in Patients with Arthrogryposis Multiplex Congenita Than Idiopathic DDH: A Dual-Center Retrospective Cohort Study.

Taylor TN, Sinha R, Pathare NN, et al.

The Journal of bone and joint surgery. American volume 2025; (107(10)):1090-1097 doi:10.2106/JBJS.24.01119.

Consensus-based recommendations for the rehabilitation of children with arthrogryposis multiplex congenita: an integrated knowledge translation approach.

Dahan-Oliel N, Cachecho S, Araujo C, et al.

Orphanet journal of rare diseases 2025; (20(1)):168 doi:10.1186/s13023-025-03671-x.

The evolving genetic landscape of neuromuscular fetal akinesias.

Haliloğlu G, Ravenscroft G

Journal of neuromuscular diseases 2025; (12(5)):577-593 doi:10.1177/22143602251339357.

Psychometric properties of functional mobility outcome measures in children with arthrogryposis multiplex congenita.

Zidan A, Snider L, Rampakakis E, et al.

Developmental medicine and child neurology 2026; (68(6)):832-845 doi:10.1111/dmcn.70036.

Gross motor functional classification for arthrogryposis multiplex congenita: protocol for co-development involving public with lived and professional experience.

Araujo CRS, Hyer L, Sienko SE, et al.

Research involvement and engagement 2025; (12(1)):19 doi:10.1186/s40900-025-00827-8.

Pediatric patients with arthrogryposis have increased early complications and long-term reoperation risk following posterior spinal fusion.

Smith-Voudouris J, Yang A, Gouzoulis MJ, et al.

Spine deformity 2026; doi:10.1007/s43390-026-01277-2.

Evaluating the Effectiveness of the Ponseti Technique in Treating Idiopathic Clubfoot: Long-Term Outcomes From an Indian Tertiary Care Centre.

Goyal A, Agarwal S, Gupta M, et al.

Cureus 2026; (18(1)):e100658 doi:10.7759/cureus.100658.

Preemptive immunotherapy for fetal acetylcholine receptor antibody disorder (FARAD): from recurrent pregnancy losses to a healthy infant - a case report.

Verlohren S, Dame C, Mayer B, et al.

Neuromuscular disorders : NMD 2026; (60()):106354 doi:10.1016/j.nmd.2026.106354.