{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,3,28]],"date-time":"2024-03-28T00:47:55Z","timestamp":1711586875225},"reference-count":7,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,1,21]],"date-time":"2005-01-21T00:00:00Z","timestamp":1106265600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2005,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Spondylometaphyseal dysplasia (SMD) is a term applied to a varied group of skeletal dysplasias that principally involve the spine and the metaphyses of long bones. SMD Sutcliffe or \u201cCorner Fracture\u201d type is characterized by short stature, developmental coxa vara, fragmented appearance of the metaphyses (\u201ccorner fractures\u201d), abnormally shaped vertebrae, odontoid hypoplasia, and dominant inheritance. We report a family with a dominantly inherited SMD with \u201ccorner fractures\u201d and severe, congenital scoliosis but neither coxa vara nor odontoid abnormalities. This could either represent phenotypic variability in SMD\u2010\u201cCorner Fracture\u201d type, or be a new, dominantly inherited SMD. The presence of severe, congenital scoliosis and short stature is present in all members of this family, and not typically seen in SMD\u2010\u201cCorner Fracture\u201d type, supporting our hypothesis that this might represent a new, dominantly inherited SMD. \u00a9 2005 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30567","type":"journal-article","created":{"date-parts":[[2005,1,22]],"date-time":"2005-01-22T01:59:18Z","timestamp":1106359158000},"page":"209-212","source":"Crossref","is-referenced-by-count":9,"title":["A dominantly inherited spondylometaphyseal dysplasia with \u201ccorner fractures\u201d and congenital scoliosis"],"prefix":"10.1002","volume":"133A","author":[{"given":"V. Reid","family":"Sutton","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James C.","family":"Hyland","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William A.","family":"Phillips","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alan E.","family":"Schlesinger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paula W.","family":"Brill","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,1,21]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s002470050005"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1148\/113.2.409"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.90.21.10325"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.95.4.1681"},{"key":"e_1_2_6_6_1","first-page":"364","article-title":"Spondylometaphyseal dysplasia, Sutcliffe type: A rediscovered entity","volume":"43","author":"Kozlowski K","year":"1992","journal-title":"Can Assoc Radiol J"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1148\/radiology.175.3.2343127"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1259\/0007-1285-46-549-685"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.30567","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.30567","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T02:43:47Z","timestamp":1697597027000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30567"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,1,21]]},"references-count":7,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2005,3]]}},"alternative-id":["10.1002\/ajmg.a.30567"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.30567","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,1,21]]}}}