{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,10]],"date-time":"2026-10-10T15:10:16Z","timestamp":1791645016404,"version":"4.3.4"},"reference-count":29,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2021,8,6]],"date-time":"2021-08-06T00:00:00Z","timestamp":1628208000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100011781","name":"Shriners Hospitals for Children","doi-asserted-by":"publisher","award":["79150"],"award-info":[{"award-number":["79150"]}],"id":[{"id":"10.13039\/100011781","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Background: Multiple pterygium syndrome (MPS) is a genetically heterogeneous rare form of arthrogryposis multiplex congenita characterized by joint contractures and webbing or pterygia, as well as distinctive facial features related to diminished fetal movement. It is divided into prenatally lethal (LMPS, MIM253290) and nonlethal (Escobar variant MPS, MIM 265000) types. Developmental spine deformities are common, may present early and progress rapidly, requiring regular fo llow-up and orthopedic management. Methods: Retrospective chart review and prospective data collection were conducted at three hospital centers. Molecular diagnosis was confirmed with whole exome or whole genome sequencing. Results: This case series describes the clinical features and scoliosis treatment on 12 patients from 11 unrelated families. A molecular diagnosis was confirmed in seven; two with MYH3 variants and five with CHRNG. Scoliosis was present in all but our youngest patient. The remaining 11 patients spanned the spectrum between mild (curve \u2264 25\u00b0) and malignant scoliosis (\u226550\u00b0 curve before 4 years of age); the two patients with MYH3 mutations presented with malignant scoliosis. Bracing and serial spine casting appear to be beneficial for a few years; non-fusion spinal instrumentation may be needed to modulate more severe curves during growth and spontaneous spine fusions may occur in those cases. Conclusions: Molecular diagnosis and careful monitoring of the spine is needed in children with MPS.<\/jats:p>","DOI":"10.3390\/genes12081220","type":"journal-article","created":{"date-parts":[[2021,8,8]],"date-time":"2021-08-08T21:49:41Z","timestamp":1628459381000},"page":"1220","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["The Clinical and Genotypic Spectrum of Scoliosis in Multiple Pterygium Syndrome: A Case Series on 12 Children"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8567-7173","authenticated-orcid":false,"given":"No\u00e9mi","family":"Dahan-Oliel","sequence":"first","affiliation":[{"name":"Shriners Hospitals for Children, Montreal, QC H4A 0A9, Canada"},{"name":"Faculty of Medicine and Health Sciences, McGill University, Montreal, QC H3G 2M1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Klaus","family":"Dieterich","sequence":"additional","affiliation":[{"name":"Inserm, U1216, Grenoble Institut Neurosciences, G\u00e9n\u00e9tique m\u00e9dicale, Universit\u00e9 Grenoble Alpes, CHU Grenoble Alpes, 38000 Grenoble, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank","family":"Rauch","sequence":"additional","affiliation":[{"name":"Shriners Hospitals for Children, Montreal, QC H4A 0A9, Canada"},{"name":"Faculty of Medicine and Health Sciences, McGill University, Montreal, QC H3G 2M1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ghalib","family":"Bardai","sequence":"additional","affiliation":[{"name":"Shriners Hospitals for Children, Montreal, QC H4A 0A9, Canada"},{"name":"Faculty of Medicine and Health Sciences, McGill University, Montreal, QC H3G 2M1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Taylor N.","family":"Blondell","sequence":"additional","affiliation":[{"name":"Shriners Hospitals for Children, Philadelphia, PA 19140, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anxhela Gjyshi","family":"Gustafson","sequence":"additional","affiliation":[{"name":"Shriners Hospitals for Children Headquarters, Tampa, FL 33607, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reggie","family":"Hamdy","sequence":"additional","affiliation":[{"name":"Shriners Hospitals for Children, Montreal, QC H4A 0A9, Canada"},{"name":"Faculty of Medicine and Health Sciences, McGill University, Montreal, QC H3G 2M1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xenia","family":"Latypova","sequence":"additional","affiliation":[{"name":"Inserm, U1216, Grenoble Institut Neurosciences, G\u00e9n\u00e9tique m\u00e9dicale, Universit\u00e9 Grenoble Alpes, CHU Grenoble Alpes, 38000 Grenoble, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kamran","family":"Shazand","sequence":"additional","affiliation":[{"name":"Shriners Hospitals for Children Headquarters, Tampa, FL 33607, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2874-8064","authenticated-orcid":false,"given":"Philip F.","family":"Giampietro","sequence":"additional","affiliation":[{"name":"Pediatric Genetics, University of Illinois, Chicago, IL 60612, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4033-6540","authenticated-orcid":false,"given":"Harold","family":"van Bosse","sequence":"additional","affiliation":[{"name":"Shriners Hospitals for Children, Philadelphia, PA 19140, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,8,6]]},"reference":[{"key":"ref_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":"Cachecho","year":"2019","journal-title":"Am. 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Rep."},{"key":"ref_8","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","year":"2017","journal-title":"J. Pediatric Orthop."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1016\/j.ajhg.2007.09.016","article-title":"Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome\/fetal akinesia patients","volume":"82","author":"Vogt","year":"2008","journal-title":"Am. J. Hum. Genet."},{"key":"ref_10","doi-asserted-by":"crossref","unstructured":"Ravenscroft, G., Clayton, J.S., Faiz, F., Sivadorai, P., Milnes, D., Cincotta, R., Moon, P., Kamien, B., Edwards, M., and Delatycki, M. (2020). Neurogenetic fetal akinesia and arthrogryposis: Genetics, expanding genotype-phenotypes and functional genomics. J. Med. 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Pediatric Orthop."}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/12\/8\/1220\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T06:41:59Z","timestamp":1760164919000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/12\/8\/1220"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,8,6]]},"references-count":29,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2021,8]]}},"alternative-id":["genes12081220"],"URL":"https:\/\/doi.org\/10.3390\/genes12081220","relation":{},"ISSN":["2073-4425"],"issn-type":[{"value":"2073-4425","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,8,6]]}}}