{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,11]],"date-time":"2023-10-11T21:52:13Z","timestamp":1697061133045},"reference-count":22,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2002,8,30]],"date-time":"2002-08-30T00:00:00Z","timestamp":1030665600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[2002,12,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Spondylometaphyseal dysplasias (SMD) are a heterogeneous group of bone dysplasias characterized by vertebral and metaphyseal changes of various severities. We report two unrelated patients of east African origin with a skeletal disorder consisting of 1) severe metaphyseal dysplasia of early onset, sparing hand bones, with bracket\u2010shaped metaphyses; 2) dysplastic pelvis with irregular iliac rim; and 3) oval\u2010shaped vertebral bodies. Contrasting with most types of SMD, the spinal dysplasia is limited to mild changes in the vertebral body shape that tend to soften with time, whereas the iliac rims have a striking lacy appearance. Except for the most common types (Kozlowski type and Schmidt type), most of the literature on SMD deals with single case reports, without longitudinal data, for which molecular definition is still lacking and classification remains unclear. These two patients could belongs to the A4 group in the classification of Maroteaux and Spranger [<jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"#bib14\">1991<\/jats:ext-link>: Pediatr Radiol 2l:293\u2013297], and illustrate the difficulties of a clinical classification of SMD. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.b.10738","type":"journal-article","created":{"date-parts":[[2002,12,2]],"date-time":"2002-12-02T13:52:40Z","timestamp":1038837160000},"page":"362-366","source":"Crossref","is-referenced-by-count":3,"title":["Spondylometaphyseal dysplasia, east\u2010African Type: A new form of early, severe SMD with rounded vertebrae"],"prefix":"10.1002","volume":"113","author":[{"given":"Alain","family":"Verloes","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Philippe","family":"Lepage","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Clarisse","family":"Baumann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pierre","family":"Maroteaux","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martine Le","family":"Merrer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2002,8,30]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320440607"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00351004"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980616)78:1<61::AID-AJMG13>3.0.CO;2-M"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/2458"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.19.2.104"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00975677"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02012189"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1259\/0007-1285-62-741-862"},{"key":"e_1_2_4_10_1","first-page":"2769","article-title":"La dysostose spondylom\u00e9taphysaire","volume":"54","author":"Kozlowski K","year":"1967","journal-title":"Presse Med"},{"key":"e_1_2_4_11_1","first-page":"89","article-title":"Spondylo\u2010metaphyseal dysplasia. (Report of 7 cases and essay of classification)","volume":"104","author":"Kozlowski K","year":"1982","journal-title":"Prog Clin Biol Res"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02390399"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1148\/radiology.175.3.2343127"},{"key":"e_1_2_4_14_1","first-page":"129","volume-title":"Les mopadies osseuses de ienfant","author":"Maroteaux P","year":"1995"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02018629"},{"key":"e_1_2_4_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/0929-693X(96)83225-8"},{"issue":"4","key":"e_1_2_4_17_1","first-page":"368","article-title":"A \u201cnew\u201d form of spondylometaphyseal dysplasia","volume":"5","author":"Murdoch JL","year":"1969","journal-title":"Birth Defects Orig Artic Ser"},{"key":"e_1_2_4_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s002470000181"},{"key":"e_1_2_4_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(63)80308-X"},{"key":"e_1_2_4_20_1","first-page":"215","article-title":"Metaphyseal dysostosis","volume":"9","author":"Sutcliffe J","year":"1966","journal-title":"Ann Radiol"},{"key":"e_1_2_4_21_1","first-page":"928","volume-title":"Radiology of syndromes, metabolic disorders and skeletal dysplasias","author":"Taybi H","year":"1996"},{"key":"e_1_2_4_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0995-87"},{"key":"e_1_2_4_23_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.33.6.450"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.b.10738","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.b.10738","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T18:24:22Z","timestamp":1696962262000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.b.10738"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,8,30]]},"references-count":22,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2002,12,15]]}},"alternative-id":["10.1002\/ajmg.b.10738"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.b.10738","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,8,30]]}}}