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At least 33 cases have been reported in the literature, mostly as single case reports or small series. The purpose of the present study is to report on the clinical findings and natural history of MSS in five children and to review the features of three others previously reported, with particular attention to the skeletal and connective tissue findings. Our study demonstrates an increased rate of nontraumatic fractures and other bony and connective tissue abnormalities that support the hypothesis that MSS should be considered an osteochondrodysplasia. In addition, long\u2010term survival beyond infancy is possible if respiratory problems are expectantly and aggressively managed. \u00a9 2005 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30580","type":"journal-article","created":{"date-parts":[[2005,8,5]],"date-time":"2005-08-05T20:49:42Z","timestamp":1123274982000},"page":"117-124","source":"Crossref","is-referenced-by-count":32,"title":["Marshall\u2013Smith syndrome: Natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities"],"prefix":"10.1002","volume":"137A","author":[{"given":"Margaret P.","family":"Adam","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raoul C.M.","family":"Hennekam","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura Davis","family":"Keppen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marilyn 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