{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,28]],"date-time":"2026-05-28T01:17:09Z","timestamp":1779931029680,"version":"3.53.1"},"reference-count":52,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2018,9,8]],"date-time":"2018-09-08T00:00:00Z","timestamp":1536364800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Grant-in Aid for Young Scientists (B) from the Japan Society for the Promotion of Science, Japan"},{"name":"Practical Research Project for Rare\/Intractable Diseases from the Japan Agency for Medical Research and Development","award":["17ek0109105h0003"],"award-info":[{"award-number":["17ek0109105h0003"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2018,11]]},"abstract":"<jats:p>Musculocontractural Ehlers\u2010Danlos syndrome caused by mutations in <jats:italic>CHST14<\/jats:italic> (mcEDS\u2010<jats:italic>CHST14<\/jats:italic>) is a recently delineated disorder, characterized by craniofacial, skeletal, visceral, and ocular malformations; and progressive cutaneous, skeletal, vascular, and visceral fragility\u2010related manifestations. Spinal lesions, though one of the most serious complications, have not been investigated systematically. In this study, we report detailed and comprehensive information about spinal lesions of 12 patients with a mean age at the first visit of 13.4\u2009years. Eight patients (66.7%) had scoliosis with a Cobb angle \u226510\u00b0, including one with severe scoliosis with a Cobb angle \u226545\u00b0. Five patients (41.7%) had kyphosis at the thoracolumbar junction with a kyphotic angle \u226520\u00b0. Three patients (25%) developed severe thoracolumbar kyphosis with a kyphotic angle \u226550\u00b0 accompanied by thoracic lordosis with a wedge\u2010like vertebral deformity and anterior vertebral osteophyte at the thoracolumbar junction, and two of them underwent surgical correction: complicated by fistula formation in one and performed safely and effectively through two\u2010staged operation in the other. Six patients (50.0%) had cervical kyphosis, all of whom except one had kyphosis \u226520\u00b0 at the thoracolumbar level. Two patients (16.7%) had atlantoaxial subluxation, and 10 patients (83.3%) had cervical vertebral malformations. Patients with mcEDS\u2010<jats:italic>CHST14<\/jats:italic> are susceptible to develop scoliosis, thoracolumbar kyphosis, and cervical kyphosis; and are recommended to have regular surveillance including total spine radiology. The present findings also suggest the critical role of dermatan sulfate in the development and maintenance of the spine.<\/jats:p>","DOI":"10.1002\/ajmg.a.40507","type":"journal-article","created":{"date-parts":[[2018,9,8]],"date-time":"2018-09-08T21:14:45Z","timestamp":1536441285000},"page":"2331-2341","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":24,"title":["Spinal manifestations in 12 patients with musculocontractural Ehlers\u2010Danlos syndrome caused by CHST14\/D4ST1 deficiency (mcEDS\u2010<i>CHST14<\/i>)"],"prefix":"10.1002","volume":"176","author":[{"given":"Masashi","family":"Uehara","sequence":"first","affiliation":[{"name":"Department of Orthopaedic Surgery Shinshu University School of Medicine  Matsumoto Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8344-7507","authenticated-orcid":false,"given":"Tomoki","family":"Kosho","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Shinshu University School of Medicine  Matsumoto Japan"},{"name":"Center for Medical Genetics Shinshu University Hospital  Matsumoto Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noriaki","family":"Yamamoto","sequence":"additional","affiliation":[{"name":"Niigata Bone Institute  Niigata Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hideaki E.","family":"Takahashi","sequence":"additional","affiliation":[{"name":"Niigata Bone Institute  Niigata Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Taketoshi","family":"Shimakura","sequence":"additional","affiliation":[{"name":"Niigata Bone Institute  Niigata Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Nakayama","sequence":"additional","affiliation":[{"name":"Department of Molecular Pathology Shinshu University Graduate School of Medicine  Matsumoto Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroyuki","family":"Kato","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery Shinshu University School of Medicine  Matsumoto Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Takahashi","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery Shinshu University School of Medicine  Matsumoto Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,9,8]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1007\/s00586-002-0507-6","article-title":"Surgical management of the spinal deformity in Ehlers\u2010Danlos syndrome type VI","volume":"12","author":"Akpinar S.","year":"2003","journal-title":"European Spine Journal"},{"key":"e_1_2_8_3_1","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1002\/(SICI)1096-8628(19980428)77:1<31::AID-AJMG8>3.0.CO;2-O","article-title":"Ehlers\u2010Danlos syndromes: Revised nosology, Villefranche, 1997. 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