{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T04:06:23Z","timestamp":1779336383297,"version":"3.51.4"},"reference-count":41,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,5,20]],"date-time":"2026-05-20T00:00:00Z","timestamp":1779235200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,5,20]],"date-time":"2026-05-20T00:00:00Z","timestamp":1779235200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100001644","name":"Dahlem Research School, Freie Universit\u00e4t Berlin","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001644","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt C"],"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    This was a single\u2010center retrospective observational study with national recruitment from October 2007 to March 2022 at the AMC clinic of the University Hospital Grenoble Alpes (CHUGA). Participants underwent a clinical spinal assessment and spine radiography. Our main objective was to analyze the type of spinal involvement within each AMC subgroup. We hypothesized that there was a difference in the prevalence of scoliosis between subgroups. Arthrogryposis multiplex congenita (AMC) is classified into three subgroups (amyoplasia, distal arthrogryposis [DA], \u201cother causes\u201d) according to their phenotype and underlying etiologies. We carried out comparative statistical analyses between AMC subgroups within two separate series: children and adults. Our outcome measures were the presence of scoliosis, Cobb angles, and underlying spinal abnormalities. In total, 203 participants were selected; 57 were excluded due to lack of spine film. We then performed a statistical analysis of 146 individuals (101 children, 45 adults). We found an overall prevalence of scoliosis of 46% in children and 78% in adults and an overall prevalence of underlying spinal anomalies of 41% in children and 53% in adults. There was a difference in the prevalence of scoliosis between the three AMC subgroups in children (\n                    <jats:italic>\u03c7<\/jats:italic>\n                    <jats:sup>2<\/jats:sup>\n                    \u2009=\u20096.8,\n                    <jats:italic>p<\/jats:italic>\n                    \u2009=\u20090.033,\n                    <jats:italic>v<\/jats:italic>\n                    \u2009=\u20090.18). The prevalence of scoliosis was higher in the DA group (47% in children and 78% in adults) and in the group \u201cother causes\u201d (65% in children) compared to the amyoplasia group (33% in children and 75% in adults). Cobb angles were greater and spinal abnormalities more prevalent in the DA group than in amyoplasia and \u201cother causes\u201d groups. Our data confirm the significant difference in the prevalence of scoliosis between AMC subgroups in children. The high prevalence of scoliosis and spinal abnormalities in all AMC subgroups justifies screening by clinical examination and systematic frontal and sagittal spine x\u2010rays during childhood.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.c.70009","type":"journal-article","created":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T03:10:17Z","timestamp":1779333017000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Spinal Involvement in a Pediatric and Adult Cohort of Patients With Arthrogryposis Multiplex Congenita"],"prefix":"10.1002","author":[{"given":"Alicia","family":"Mom","sequence":"first","affiliation":[{"name":"National Reference Center for Arthrogryposis Multiplex Congenita CHU Grenoble Alpes  Grenoble France"},{"name":"Department for Pediatric Rehabilitation and Physical Medicine CHU Grenoble Alpes  Grenoble France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V\u00e9ronique","family":"Bourg","sequence":"additional","affiliation":[{"name":"National Reference Center for Arthrogryposis Multiplex Congenita CHU Grenoble Alpes  Grenoble France"},{"name":"Department for Pediatric Rehabilitation and Physical Medicine CHU Grenoble Alpes  Grenoble France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shenhao","family":"Dai","sequence":"additional","affiliation":[{"name":"Department for Adult Rehabilitation and Physical Medicine CHU Grenoble Alpes  Grenoble France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5485-9230","authenticated-orcid":false,"given":"Alicia\u2010Marine","family":"Milot","sequence":"additional","affiliation":[{"name":"National Reference Center for Arthrogryposis Multiplex Congenita CHU Grenoble Alpes  Grenoble France"},{"name":"Department for Pediatric Rehabilitation and Physical Medicine CHU Grenoble Alpes  Grenoble France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dominic","family":"Perennou","sequence":"additional","affiliation":[{"name":"National Reference Center for Arthrogryposis Multiplex Congenita CHU Grenoble Alpes  Grenoble France"},{"name":"Department for Adult Rehabilitation and Physical Medicine CHU Grenoble Alpes  Grenoble France"},{"name":"Dept of NeuroRehabilitation Univ. Grenoble Alpes, UMR CNRS 5105 Neuropsychology and NeuroCognition (LPNC), Grenoble\u2010Alpes University Hospital (South Site)  Grenoble France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Klaus","family":"Dieterich","sequence":"additional","affiliation":[{"name":"National Reference Center for Arthrogryposis Multiplex Congenita CHU Grenoble Alpes  Grenoble France"},{"name":"Univ. Grenoble Alpes, Inserm U1209, IAB, CHU Grenoble Alpes  Grenoble France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2026,5,20]]},"reference":[{"issue":"3","key":"e_1_2_10_2_1","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1002\/ajmg.c.31717","article-title":"Quality of Life, Satisfaction With Life, and Functional Mobility of Young Adults With Arthrogryposis After Leaving Pediatric Care","volume":"181","author":"Altiok H.","year":"2019","journal-title":"American Journal of Medical Genetics. Part C, Seminars in Medical Genetics"},{"issue":"17","key":"e_1_2_10_3_1","doi-asserted-by":"crossref","first-page":"1815","DOI":"10.1097\/BRS.0b013e3181ab64e9","article-title":"Spine Deformities in Rare Congenital Syndromes: Clinical Issues","volume":"34","author":"Campbell R. M. J.","year":"2009","journal-title":"Spine"},{"issue":"3","key":"e_1_2_10_4_1","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1002\/ajmg.c.31725","article-title":"Pain Among Children and Adults Living With Arthrogryposis Multiplex Congenita: A Scoping Review","volume":"181","author":"Cirillo A.","year":"2019","journal-title":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics"},{"issue":"3","key":"e_1_2_10_5_1","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1002\/ajmg.c.31721","article-title":"International Multidisciplinary Collaboration Toward an Annotated Definition of Arthrogryposis Multiplex Congenita","volume":"181","author":"Dahan\u2010Oliel N.","year":"2019","journal-title":"American Journal of Medical Genetics. Part C, Seminars in Medical Genetics"},{"issue":"18","key":"e_1_2_10_6_1","first-page":"e1596","article-title":"Disability in Adults With Arthrogryposis Is Severe, Partly Invisible, and Varies by Genotype","volume":"90","author":"Dai S.","year":"2018","journal-title":"Neurology"},{"issue":"1","key":"e_1_2_10_7_1","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1067\/mpd.2002.121148","article-title":"Multiple Congenital Contractures: Birth Prevalence, Etiology, and Outcome","volume":"140","author":"Darin N.","year":"2002","journal-title":"Journal of Pediatrics"},{"key":"e_1_2_10_8_1","doi-asserted-by":"crossref","DOI":"10.1016\/j.biomaterials.2021.121316","article-title":"Biomaterial\u2010Mediated Presentation of wnt5a Mimetic Ligands Enhances Chondrogenesis and Metabolism of Stem Cells by Activating Non\u2010Canonical Wnt Signaling","volume":"281","author":"Deng Y.","year":"2022","journal-title":"Biomaterials"},{"key":"e_1_2_10_9_1","unstructured":"Dieterich K. V.Bourg E.Bourgeois et\u00a0al.2021.Protocole National de Diagnostic et de Soins (PNDS) Arthrogryposes multiples cong\u00e9nitales. Haute Autorit\u00e9 de Sant\u00e9 Guide Maladie Chronique."},{"issue":"2","key":"e_1_2_10_10_1","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1097\/00007632-197806000-00009","article-title":"Scoliosis in Arthrogryposis Multiplex Congenita","volume":"3","author":"Drummond D. S.","year":"1978","journal-title":"Spine"},{"issue":"5","key":"e_1_2_10_11_1","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1007\/s11832-009-0187-4","article-title":"Arthrogryposis Multiplex Congenita. Long\u2010Term Follow\u2010Up From Birth Until Skeletal Maturity","volume":"3","author":"Fassier A.","year":"2009","journal-title":"Journal of Children's Orthopaedics"},{"issue":"4","key":"e_1_2_10_12_1","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1016\/S1473-3099(13)70324-4","article-title":"Strengthening the Reporting of Molecular Epidemiology for Infectious Diseases (STROME\u2010ID): An Extension of the STROBE Statement","volume":"14","author":"Field N.","year":"2014","journal-title":"Lancet Infectious Diseases"},{"key":"e_1_2_10_13_1","doi-asserted-by":"crossref","DOI":"10.1016\/j.archoralbio.2022.105469","article-title":"The Glycoprotein Wnt6 Regulates Human Dental Papilla Cells Differentiation by Canonical Wnt Signaling Pathway","volume":"141","author":"Fu H.","year":"2022","journal-title":"Archives of Oral Biology"},{"issue":"7","key":"e_1_2_10_14_1","doi-asserted-by":"crossref","DOI":"10.3390\/genes13071194","article-title":"Overview of Gene Special Issue \u201cGenetic Conditions Affecting the Skeleton: Congenital, Idiopathic Scoliosis and Arthrogryposis\u201d","volume":"13","author":"Giampietro P. F.","year":"2022","journal-title":"Genes"},{"issue":"1","key":"e_1_2_10_15_1","doi-asserted-by":"crossref","DOI":"10.1186\/1748-7161-5-24","article-title":"Surgical Treatment of Scoliosis in a Rare Disease: Arthrogryposis","volume":"5","author":"Greggi T.","year":"2010","journal-title":"Scoliosis"},{"issue":"1","key":"e_1_2_10_16_1","doi-asserted-by":"crossref","DOI":"10.1016\/j.otsr.2020.102781","article-title":"Amyoplasia and Distal Arthrogryposis","volume":"107","author":"Griffet J.","year":"2021","journal-title":"Orthopaedics & Traumatology, Surgery & Research"},{"issue":"8","key":"e_1_2_10_17_1","doi-asserted-by":"crossref","first-page":"464","DOI":"10.1016\/j.ejmg.2014.03.008","article-title":"Arthrogryposis (Multiple Congenital Contractures): Diagnostic Approach to Etiology, Classification, Genetics, and General Principles","volume":"57","author":"Hall J. G.","year":"2014","journal-title":"European Journal of Medical Genetics"},{"issue":"1","key":"e_1_2_10_18_1","doi-asserted-by":"crossref","DOI":"10.1186\/s12891-018-2355-5","article-title":"Difference in Whole Spinal Alignment Between Supine and Standing Positions in Patients With Adult Spinal Deformity Using a New Comparison Method With Slot\u2010Scanning Three\u2010Dimensional X\u2010Ray Imager and Computed Tomography Through Digital Reconstructed Radiography","volume":"19","author":"Hasegawa K.","year":"2018","journal-title":"BMC Musculoskeletal Disorders"},{"issue":"3","key":"e_1_2_10_19_1","first-page":"293","article-title":"Scoliosis in Arthrogryposis Multiplex Congenita","volume":"60","author":"Herron L. D.","year":"1978","journal-title":"Journal of Bone & Joint Surgery"},{"issue":"2","key":"e_1_2_10_20_1","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1016\/j.ejogrb.2011.09.027","article-title":"Arthrogryposis Multiplexa Congenita: An Epidemiologic Study of Nearly 9 Million Births in 24 EUROCAT Registers","volume":"159","author":"Hoff J. M.","year":"2011","journal-title":"European Journal of Obstetrics & Gynecology and Reproductive Biology"},{"issue":"5","key":"e_1_2_10_21_1","doi-asserted-by":"crossref","first-page":"856","DOI":"10.1007\/s00776-012-0216-x","article-title":"Improvement of Atelectasis After Corrective Fusion for Lordoscoliosis With Intrathoracic Vertebral Protrusion in Arthrogryposis Multiplex Congenita: Efficacy of Positive\u2010Pressure Ventilation Test","volume":"18","author":"Imagama S.","year":"2013","journal-title":"Journal of Orthopaedic Science"},{"issue":"17","key":"e_1_2_10_22_1","doi-asserted-by":"crossref","first-page":"1756","DOI":"10.1097\/BRS.0b013e3181ac0045","article-title":"Classification of Congenital Scoliosis and Kyphosis: A New Approach to the Three\u2010Dimensional Classification for Progressive Vertebral Anomalies Requiring Operative Treatment","volume":"34","author":"Kawakami N.","year":"2009","journal-title":"Spine"},{"issue":"1","key":"e_1_2_10_23_1","doi-asserted-by":"crossref","first-page":"S24","DOI":"10.1097\/BPO.0000000000000993","article-title":"Treatment of Scoliosis Associated With Arthrogryposis Multiplex Congenita","volume":"37","author":"Komolkin I.","year":"2017","journal-title":"Journal of Pediatric Orthopaedics"},{"key":"e_1_2_10_24_1","doi-asserted-by":"crossref","DOI":"10.1186\/1748-7161-8-17","article-title":"Screening for Adolescent Idiopathic Scoliosis: An Information Statement by the Scoliosis Research Society International Task Force","volume":"8","author":"Labelle H.","year":"2013","journal-title":"Scoliosis"},{"issue":"7","key":"e_1_2_10_25_1","doi-asserted-by":"crossref","DOI":"10.3390\/genes12071052","article-title":"A Genomic Approach to Delineating the Occurrence of Scoliosis in Arthrogryposis Multiplex Congenita","volume":"12","author":"Latypova X.","year":"2021","journal-title":"Genes"},{"key":"e_1_2_10_26_1","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1136\/jmedgenet-2021-107823","article-title":"Diagnostic Workup in Children With Arthrogryposis: Description of Practices From a Single Reference Centre, Comparison With Literature and Suggestion of Recommendations","volume":"60","author":"Le Tanno P.","year":"2023","journal-title":"Journal of Medical Genetics"},{"issue":"8","key":"e_1_2_10_27_1","doi-asserted-by":"crossref","first-page":"E456","DOI":"10.1097\/BRS.0000000000002398","article-title":"Risk Factors of Impaired Pulmonary Function in Arthrogryposis Multiplex Congenital Patients With Concomitant Scoliosis: A Comparison With Adolescent Idiopathic Scoliosis","volume":"43","author":"Li Y.","year":"2018","journal-title":"Spine"},{"issue":"22","key":"e_1_2_10_28_1","doi-asserted-by":"crossref","first-page":"2548","DOI":"10.1097\/01.brs.0000144828.72721.d8","article-title":"The Assessment of Intraobserver and Interobserver Error in the Measurement of Noncongenital Scoliosis in Children \u2264\u200910\u2009Years of Age","volume":"29","author":"Loder R. T.","year":"2004","journal-title":"Spine"},{"issue":"4","key":"e_1_2_10_29_1","doi-asserted-by":"crossref","first-page":"2431","DOI":"10.1152\/physrev.00028.2017","article-title":"The BMP Pathway and Its Inhibitors in the Skeleton","volume":"98","author":"Lowery J. W.","year":"2018","journal-title":"Physiological Reviews"},{"issue":"12","key":"e_1_2_10_30_1","doi-asserted-by":"crossref","first-page":"1057","DOI":"10.1002\/bdra.20738","article-title":"Prevalence of Multiple Congenital Contractures Including Arthrogryposis Multiplex Congenita in Alberta, Canada, and a Strategy for Classification and Coding","volume":"88","author":"Lowry R. B.","year":"2010","journal-title":"Birth Defects Research Part A: Clinical and Molecular Teratology"},{"issue":"8","key":"e_1_2_10_31_1","doi-asserted-by":"crossref","first-page":"1128","DOI":"10.2106\/00004623-198264080-00003","article-title":"The Natural History of Congenital Scoliosis. A Study of Two Hundred and Fifty\u2010One Patients","volume":"64","author":"McMaster M. J.","year":"1982","journal-title":"JBJS"},{"issue":"10","key":"e_1_2_10_32_1","doi-asserted-by":"crossref","first-page":"2449","DOI":"10.1007\/s00586-020-06450-3","article-title":"Vertebral, Intraspinal and Other Organ Anomalies in Congenital Scoliosis","volume":"29","author":"Mohanty S. P.","year":"2020","journal-title":"European Spine Journal"},{"issue":"3","key":"e_1_2_10_33_1","doi-asserted-by":"crossref","DOI":"10.2106\/00004623-199072030-00002","article-title":"Measurement of the Cobb Angle on Radiographs of Patients Who Have Scoliosis. Evaluation of Intrinsic Error","volume":"72","author":"Morrissy R. T.","year":"1990","journal-title":"Journal of Bone and Joint Surgery"},{"issue":"5","key":"e_1_2_10_34_1","doi-asserted-by":"crossref","first-page":"1270","DOI":"10.1002\/ajmg.a.38169","article-title":"Long\u2010Term Functional and Mobility Outcomes for Individuals With Arthrogryposis Multiplex Congenita","volume":"173","author":"Nouraei H.","year":"2017","journal-title":"American Journal of Medical Genetics Part A"},{"key":"e_1_2_10_35_1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.22203\/eCM.v029a01","article-title":"Biomechanics of Foetal Movement","volume":"29","author":"Nowlan N. C.","year":"2015","journal-title":"European Cells & Materials"},{"issue":"6","key":"e_1_2_10_36_1","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1111\/joa.12171","article-title":"Mechanoadaptation of Developing Limbs: Shaking a Leg","volume":"224","author":"Pollard A. S.","year":"2014","journal-title":"Journal of Anatomy"},{"issue":"3","key":"e_1_2_10_37_1","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1002\/ajmg.a.38593","article-title":"A Novel Pathogenic MYH3 Mutation in a Child With Sheldon\u2010Hall Syndrome and Vertebral Fusions","volume":"176","author":"Scala M.","year":"2018","journal-title":"American Journal of Medical Genetics, Part A"},{"issue":"9","key":"e_1_2_10_38_1","doi-asserted-by":"crossref","first-page":"769","DOI":"10.1016\/j.spinee.2010.02.020","article-title":"Reliability Assessment of Cobb Angle Measurements Using Manual and Digital Methods","volume":"10","author":"Tanure M. C.","year":"2010","journal-title":"Spine Journal"},{"issue":"1","key":"e_1_2_10_39_1","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1007\/s00590-015-1701-7","article-title":"Reliability Analysis of Cobb Angle Measurements of Congenital Scoliosis Using X\u2010Ray and 3D\u2010CT Images","volume":"26","author":"Tauchi R.","year":"2016","journal-title":"European Journal of Orthopaedic Surgery and Traumatology"},{"issue":"1","key":"e_1_2_10_40_1","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1097\/MOP.0000000000000847","article-title":"Orthopaedic Care of the Child With Arthrogryposis: A 2020 Overview","volume":"32","author":"Bosse H. J. P.","year":"2020","journal-title":"Current Opinion in Pediatrics"},{"key":"e_1_2_10_41_1","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.15084"},{"issue":"5","key":"e_1_2_10_42_1","doi-asserted-by":"crossref","first-page":"656","DOI":"10.1097\/01241398-200009000-00021","article-title":"Scoliosis in Arthrogryposis Multiplex Congenita: Results After Nonsurgical and Surgical Treatment","volume":"20","author":"Yingsakmongkol W.","year":"2000","journal-title":"Journal of Pediatric Orthopedics"}],"container-title":["American Journal of Medical Genetics Part C: Seminars in Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.c.70009","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.c.70009","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.c.70009","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T03:10:27Z","timestamp":1779333027000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.c.70009"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,5,20]]},"references-count":41,"alternative-id":["10.1002\/ajmg.c.70009"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.c.70009","archive":["Portico"],"relation":{},"ISSN":["1552-4868","1552-4876"],"issn-type":[{"value":"1552-4868","type":"print"},{"value":"1552-4876","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,5,20]]},"assertion":[{"value":"2026-01-23","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-05-04","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-05-20","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"ajmg.c.70009"}}