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Many genetic and nongenetic causes have been described leading to a preliminar etiological classification into defects of peroxisomal metabolism, defects in cholesterol metabolism, and vitamin K (vit K) metabolism. However, numerous cases of CDP still remain unclassified. The difficulties in reaching a causal diagnosis are illustrated here by a 23\u2010week\u2010old fetus with nonrhizomelic CDP characterized by extensive cartilage stippling, brachyphalangy, and nasal hypoplasia. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20202","type":"journal-article","created":{"date-parts":[[2003,6,4]],"date-time":"2003-06-04T06:07:08Z","timestamp":1054706828000},"page":"97-104","source":"Crossref","is-referenced-by-count":17,"title":["Fetus with an unusual form of nonrhizomelic chondrodysplasia punctata: Case report and review"],"prefix":"10.1002","volume":"120A","author":[{"given":"Marja W.","family":"Wessels","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolette J.","family":"Den Hollander","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ronald R.","family":"De Krijger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter G.J.","family":"Nikkels","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen","family":"Brandenburg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raoul","family":"Hennekam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick J.","family":"Willems","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2003,4,29]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.8.695"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19961028)65:3<241::AID-AJMG13>3.0.CO;2-O"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0497-369"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/10357"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V92.12.4554"},{"key":"e_1_2_5_7_1","unstructured":"BronsJTJ van der HartenJJ.1988.Skeletal dysplasias: Pre\u2010 and postnatal identification: An ultrasonographic radiologic and pathologic study. 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