{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T16:05:37Z","timestamp":1792166737295,"version":"4.4.0"},"reference-count":12,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4041,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1994,5,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Spondylocarpotarsal synostosis syndrome is characterized by autosomal recessive inheritance, failure of normal spinal segmentation causing symmetrical block vertebrae or scoliosis, and lordosis. There is a disproportionately short trunk. Some patients have a unilateral unsegmented bar. Other skeletal changes include carpal synostosis, usually capitate\u2010hamate and lunate\u2010triquetrum. Tarsal synostoses were present in patients in whom the feet were radiographed. Stature is short. The feet are flat. Cleft palate and sensorineural or mixed hearing loss are variable manifestations. We have reviewed the literature and present 6 new patients, 2 of them sibs. \u00a9 1994 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320510102","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:11:28Z","timestamp":1118509888000},"page":"1-8","source":"Crossref","is-referenced-by-count":27,"title":["Spondylocarpotarsal synostosis syndrome (with or without unilateral unsegmented bar)"],"prefix":"10.1002","volume":"51","author":[{"suffix":"Jr.","given":"Leonard O.","family":"Langer","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert J.","family":"Gorlin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dian","family":"Donnai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ben C. J.","family":"Hamel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carol","family":"Clericuzio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"crossref","first-page":"259","DOI":"10.2106\/00004623-197860020-00023","article-title":"Familial congenital scoliosis with unilateral unsegmented bar. Case report of two siblings","volume":"60","author":"Akbarnia BA","year":"1978","journal-title":"J Bone Jt Surg"},{"key":"e_1_2_1_3_1","first-page":"326","article-title":"Existe\u2010t\u2010el un syndrome pterygo\u2010acro\u2010vert\u00e9ral?. A propos de 6 observations","volume":"21","author":"Fauchet R","year":"1978","journal-title":"Ann M\u00e9d Phys"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajpa.1330450206"},{"key":"e_1_2_1_5_1","volume-title":"Syndromes of the Head and Neck","author":"Gorlin RJ","year":"1990"},{"key":"e_1_2_1_6_1","unstructured":"HunterA FarrellS MacLeodP GilliesC(1994): A man with abnormal vertebral segmentation and carpal bone fusions.Clin Dysmorphol(in press)."},{"issue":"2","key":"e_1_2_1_7_1","first-page":"10","article-title":"Case report 8","author":"Jones KL","year":"1973","journal-title":"Syndrome Identification"},{"issue":"6","key":"e_1_2_1_8_1","first-page":"83","article-title":"A recessive form of congenital scoliosis different from spondylothoracic dysplasia","volume":"11","author":"Langer LO","year":"1975","journal-title":"Birth Defects"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.112.3.443"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320250304"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320420305"},{"key":"e_1_2_1_12_1","first-page":"12","volume-title":"Congenital Deformities of the Spine","author":"Winter RB","year":"1983"},{"key":"e_1_2_1_13_1","doi-asserted-by":"crossref","first-page":"365","DOI":"10.2106\/00004623-196345020-00016","article-title":"Hereditary transmission of congenital coalition of the calcaneus to the navicular","volume":"45","author":"Wray RB","year":"1963","journal-title":"J Bone Jt Surg"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320510102","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320510102","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,24]],"date-time":"2023-10-24T07:19:42Z","timestamp":1698131982000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320510102"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,5,15]]},"references-count":12,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1994,5,15]]}},"alternative-id":["10.1002\/ajmg.1320510102"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320510102","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994,5,15]]}}}