Research & Literature

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.

Arthrogryposis Multiplex Congenita: Multiple Congenital Joint Contractures.

Sucuoglu H, Ornek NI, Caglar C

Case reports in medicine 2015; (2015()):379730 doi:10.1155/2015/379730.

Short-term results of early (before 6 months) open reduction of dislocated hips in arthrogryposis multiplex congenita.

Aydin BK, Yilmaz G, Senaran H, Durgut F

Journal of pediatric orthopedics. Part B 2016; (25(6)):509-13 doi:10.1097/BPB.0000000000000371.

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.

Intra-familial variability associated with recessive RYR1 mutation diagnosed prenatally by exome sequencing.

Casey J, Flood K, Ennis S, et al.

Prenatal diagnosis 2016; (36(11)):1020-1026 doi:10.1002/pd.4925.

Expansion of the GLE1-associated arthrogryposis multiplex congenita clinical spectrum.

Smith C, Parboosingh JS, Boycott KM, et al.

Clinical genetics 2017; (91(3)):426-430 doi:10.1111/cge.12876.

Oropharyngeal Dysphagia Is Strongly Correlated With Apparent Life-Threatening Events.

Duncan DR, Amirault J, Mitchell PD, et al.

Journal of pediatric gastroenterology and nutrition 2017; (65(2)):168-172 doi:10.1097/MPG.0000000000001439.

Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria.

Ravenscroft G, Di Donato N, Hahn G, et al.

Neuromuscular disorders : NMD 2016; (26(11)):744-748 doi:10.1016/j.nmd.2016.09.009.

Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita.

Feingold-Zadok M, Chitayat D, Chong K, et al.

Prenatal diagnosis 2017; (37(2)):144-150 doi:10.1002/pd.4977.

Reorientational Proximal Femoral Osteotomies for Arthrogrypotic Hip Contractures.

van Bosse HJ, Saldana RE

The Journal of bone and joint surgery. American volume 2017; (99(1)):55-64 doi:10.2106/JBJS.16.00304.

Identification of a novel CNTNAP1 mutation causing arthrogryposis multiplex congenita with cerebral and cerebellar atrophy.

Lakhani S, Doan R, Almureikhi M, et al.

European journal of medical genetics 2017; (60(5)):245-249 doi:10.1016/j.ejmg.2017.02.006.

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.

Risk Factors of Impaired Pulmonary Function in Arthrogryposis Multiplex Congenital Patients With Concomitant Scoliosis: A Comparison With Adolescent Idiopathic Scoliosis.

Li Y, Sheng F, Xia C, et al.

Spine 2018; (43(8)):E456-E460 doi:10.1097/BRS.0000000000002398.

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.

Speech-language pathology aspects in a pediatric case of head and neck arthrogryposis.

Trindade JA, Freitas JDS, Menzen L, et al.

CoDAS 2018; (30(2)):e20170181 doi:10.1590/2317-1782/20182017181.

Absence of Axoglial Paranodal Junctions in a Child With CNTNAP1 Mutations, Hypomyelination, and Arthrogryposis.

Conant A, Curiel J, Pizzino A, et al.

Journal of child neurology 2018; (33(10)):642-650 doi:10.1177/0883073818776157.

De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy.

Wojcik MH, Okada K, Prabhu SP, et al.

American journal of medical genetics. Part A 2018; (176(12)):2623-2629 doi:10.1002/ajmg.a.40493.

Pena-Shokeir syndrome: current management strategies and palliative care.

Adam S, Coetzee M, Honey EM

The application of clinical genetics 2018; (11()):111-120 doi:10.2147/TACG.S154643.

[Exome diagnostics in neurology].

Zech M, Wagner M, Schormair B, et al.

Der Nervenarzt 2019; (90(2)):131-137 doi:10.1007/s00115-018-0667-1.

Development of an online registry for adults with arthrogryposis multiplex congenita: A protocol paper.

Sawatzky B, Dahan-Oliel N, Davison AM, et al.

American journal of medical genetics. Part C, Seminars in medical genetics 2019; (181(3)):454-460 doi:10.1002/ajmg.c.31706.

Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita.

Frints SGM, Hennig F, Colombo R, et al.

Human mutation 2019; (40(12)):2270-2285 doi:10.1002/humu.23841.

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.

Severe brain involvement in 5q spinal muscular atrophy type 0.

Mendonça RH, Rocha AJ, Lozano-Arango A, et al.

Annals of neurology 2019; (86(3)):458-462 doi:10.1002/ana.25549.

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.

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.

Recessive mutations in SCYL2 cause a novel syndromic form of arthrogryposis in humans.

Seidahmed MZ, Al-Kindi A, Alsaif HS, et al.

Human genetics 2020; (139(4)):513-519 doi:10.1007/s00439-020-02117-7.

A Quality Improvement Initiative to Reduce Gastrostomy Tube Placement in Aspirating Patients.

McSweeney ME, Meleedy-Rey P, Kerr J, et al.

Pediatrics 2020; (145(2)) doi:10.1542/peds.2019-0325.

CNTNAP1 Mutations and Their Clinical Presentations: New Case Report and Systematic Review.

Sabbagh S, Antoun S, Mégarbané A

Case reports in medicine 2020; (2020()):8795607 doi:10.1155/2020/8795607.

Genetics of mitochondrial diseases: Identifying mutations to help diagnosis.

Stenton SL, Prokisch H

EBioMedicine 2020; (56()):102784 doi:10.1016/j.ebiom.2020.102784.

Clinical Course in a Patient With Spinal Muscular Atrophy Type 0 Treated With Nusinersen and Onasemnogene Abeparvovec.

Matesanz SE, Curry C, Gross B, et al.

Journal of child neurology 2020; (35(11)):717-723 doi:10.1177/0883073820928784.

Arthrogryposis is a descriptive term, not a specific disease entity: Escobar Syndrome is an example.

Al Kaissi A, Ryabykh S, Ochirova P, et al.

Minerva pediatrics 2024; (76(1)):30-36 doi:10.23736/S2724-5276.20.05796-5.

Arthrogryposis Multiplex Congenita.

Langston S, Chu A

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

Diagnostic Testing for Patients with Spinal Muscular Atrophy.

Brandsema JF, Gross BN, Matesanz SE

Clinics in laboratory medicine 2020; (40(3)):357-367 doi:10.1016/j.cll.2020.05.005.

De novo mutations of SCN1A are responsible for arthrogryposis broadening the SCN1A-related phenotypes.

Jaber D, Gitiaux C, Blesson S, et al.

Journal of medical genetics 2021; (58(11)):737-742 doi:10.1136/jmedgenet-2020-107166.

Current scenario of the genetic testing for rare neurological disorders exploiting next generation sequencing.

Di Resta C, Pipitone GB, Carrera P, Ferrari M

Neural regeneration research 2021; (16(3)):475-481 doi:10.4103/1673-5374.293135.

A review of the orthopedic interventions and functional outcomes among a cohort of 114 children with arthrogryposis multiplex congenita.

Hansen-Jaumard D, Elfassy C, Montpetit K, et al.

Journal of pediatric rehabilitation medicine 2020; (13(3)):263-271 doi:10.3233/PRM-190657.

Using the Term Amyoplasia Loosely Can Lead to Confusion.

Hall JG

American journal of human genetics 2020; (107(6)):1186-1187 doi:10.1016/j.ajhg.2020.10.014.

Assistive and Rehabilitative Effects of the Playskin LiftTM Exoskeletal Garment on Reaching and Object Exploration in Children With Arthrogryposis.

Babik I, Cunha AB, Lobo MA

The American journal of occupational therapy : official publication of the American Occupational Therapy Association 2021; (75(1)):7501205110p1-7501205110p10 doi:10.5014/ajot.2020.040972.

Skin necrosis in spinal muscular atrophy: Case report and review of the literature.

Weissman AS, Kennedy KR, Powell MR, Davis LS

Pediatric dermatology 2021; (38(3)):632-636 doi:10.1111/pde.14538.

A 7-year old female with arthrogryposis multiplex congenita, Duane retraction syndrome, and Marcus Gunn phenomenon due to a ZC4H2 gene mutation: a clinical presentation of the Wieacker-Wolff syndrome.

Godfrey D, Torres A, Heidary G, et al.

Ophthalmic genetics 2021; (42(5)):612-614 doi:10.1080/13816810.2021.1923040.

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 need for evidence-based treatment decisions in spinal muscular atrophy type 0.

Erbas Y, Gusset N

Annals of clinical and translational neurology 2021; (8(10)):2094-2095 doi:10.1002/acn3.51459.

Falls and Associated Factors among Adolescents and Young Adults with Arthrogryposis Multiplex Congenita.

Sions JM, Donohoe M, Beisheim EH, et al.

International journal of rare diseases & disorders 2021; (4(2)) doi:10.23937/2643-4571/1710035.

Advancing research in arthrogryposis: time for common and specific terminology.

Elfassy C

Developmental medicine and child neurology 2022; (64(4)):407 doi:10.1111/dmcn.15110.

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.

Case Report: Prenatal Diagnosis of Nemaline Myopathy.

Liu D, Yu J, Wang X, et al.

Frontiers in pediatrics 2022; (10()):937668 doi:10.3389/fped.2022.937668.

Fetuses and infants with Amyoplasia congenita in congenital Zika syndrome: The evidence of a viral cause. A narrative review of 144 cases.

Hageman G, Nihom J

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2023; (42()):1-14 doi:10.1016/j.ejpn.2022.11.002.

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.

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.

A rare case of arthrogryposis multiplex congenita in a 2-year-old boy case report.

Waseem A, Shah AM, Hussain AA, et al.

SAGE open medical case reports 2023; (11()):2050313X231200418 doi:10.1177/2050313X231200418.

Comparison of first-tier whole-exome sequencing with a multi-step traditional approach for diagnosing paediatric outpatients: An Italian prospective study.

Rosina E, Pezzani L, Apuril E, et al.

Molecular genetics & genomic medicine 2024; (12(1)):e2316 doi:10.1002/mgg3.2316.

Arthrogryposis Multiplex Congenita and the Importance of Orthoses: A Case Report.

Gouveia F, Pinto L, Santos Sousa D, et al.

Cureus 2024; (16(2)):e53993 doi:10.7759/cureus.53993.

Clinical outcomes before and after videofluoroscopic swallow study in children 24 months of age or younger.

Barth FL, Levy DS, Gasparin M, et al.

Jornal brasileiro de pneumologia : publicacao oficial da Sociedade Brasileira de Pneumologia e Tisilogia 2024; (50(1)):e20230290 doi:10.36416/1806-3756/e20230290.

The experience of caregiving for children with rare musculoskeletal conditions: a qualitative study in arthrogryposis multiplex congenita.

Elekanachi RU, Lajoie A, Tavukcu S, et al.

Orphanet journal of rare diseases 2024; (19(1)):235 doi:10.1186/s13023-024-03224-8.

SCYL2-related autosomal recessive neurodevelopmental disorders: Arthrogryposis multiplex congenita-4 and beyond?

Malbos M, Vera G, Sheth H, et al.

Clinical genetics 2024; (106(6)):757-763 doi:10.1111/cge.14608.

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.

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.

Cast-rod construct for gradual correction of fixed knee flexion deformities in young children with arthrogryposis: Technical note and preliminary results.

Hassanein MY, Khalf A, Khaled M, et al.

Orthopaedics & traumatology, surgery & research : OTSR 2025; (111(5)):104303 doi:10.1016/j.otsr.2025.104303.

Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum.

Pérez-Vidarte F, Estévez-Arias B, Matalonga L, et al.

Annals of clinical and translational neurology 2025; (12(8)):1528-1547 doi:10.1002/acn3.70088.

Maternal experience of fetal movements from a child with AMC: MECA survey.

Arduç A, Linskens IH, Dussa CU, et al.

Early human development 2025; (207()):106308 doi:10.1016/j.earlhumdev.2025.106308.

Genetic testing for diagnosing neurodevelopmental disorders and epilepsy: a systematic review and meta-analysis.

Chang YM, Huang YT, Lai PC

Systematic reviews 2025; (14(1)):155 doi:10.1186/s13643-025-02896-y.

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.

Fracture Risk Following Hardware Removal in Children With Arthrogryposis.

Hyer LC, Shull ER, Potash AM, et al.

Journal of pediatric orthopedics 2026; (46(6)):e592-e597 doi:10.1097/BPO.0000000000003152.

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.

Factors associated with functional mobility in 256 children with arthrogryposis multiplex congenita: A multicentric cross-sectional study.

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

Archives of physical medicine and rehabilitation 2025; doi:10.1016/j.apmr.2025.12.014.

Surgical timing and management patterns across joints in arthrogryposis: a systematic review.

Mounsef PJ, Laroche M, Ben Letaifa R, et al.

Journal of pediatric orthopedics. Part B 2026; doi:10.1097/BPB.0000000000001332.

Genetic Bases of Arthrogryposis Multiplex Congenita.

Melki J

Annual review of genomics and human genetics 2026; doi:10.1146/annurev-genom-120324-031410.