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This is a new, syndromic form of SMD for which there is evidence for autosomal recessive transmission. Recognition of the specific bony features described here should precipitate comprehensive ophthalmologic assessment, since vision impairment becomes significantly disabling with age. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30145","type":"journal-article","created":{"date-parts":[[2004,7,21]],"date-time":"2004-07-21T20:02:20Z","timestamp":1090440140000},"page":"265-276","source":"Crossref","is-referenced-by-count":19,"title":["Spondylometaphyseal dysplasia with cone\u2010rod dystrophy"],"prefix":"10.1002","volume":"129A","author":[{"given":"Brent A.","family":"Walters","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael L.","family":"Raff","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James Ver","family":"Hoeve","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rachel","family":"Tesser","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leonard O.","family":"Langer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas D.","family":"France","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ian A.","family":"Glass","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard M.","family":"Pauli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,8,18]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004310050679"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980413)76:5<410::AID-AJMG8>3.0.CO;2-Q"},{"issue":"3","key":"e_1_2_7_4_1","first-page":"A59","article-title":"A unique type of spondylometaphyseal dysplasia in three children","volume":"47","author":"Greenhaw GA","year":"1990","journal-title":"Am J Hum Genet"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1067\/mpa.2002.129561"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00975677"},{"key":"e_1_2_7_7_1","first-page":"299","volume-title":"Progress in pediatric radiology","author":"Kozlowski K","year":"1973"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02390399"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1002775518141"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1148\/radiology.175.3.2343127"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00367770"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1002016531591"},{"key":"e_1_2_7_13_1","first-page":"375","article-title":"Spondylometaphyseal dysplasia (Kozlowski). 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