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Electron microscopy of the skin biopsy showed collagen abnormalities with a \u201chieroglyphic appearance.\u201d The analysis of the synthesis of collagen in the cultured dermal fibroblasts demonstrated an accumulation of procollagen I. Molecular analysis found a nonsense mutation <jats:italic>Q225X<\/jats:italic> in <jats:italic>ADAMTS2<\/jats:italic> gene, which encodes procollagen I N\u2010terminal proteinase. All these findings confirmed the diagnosis of Ehlers\u2013Danlos syndrome type VIIC (MIM 225410). Family studies suggested a founder effect in Ashkenazi Jews originating from Belarus. Prenatal diagnosis in the subsequent pregnancy reassured the parents that the fetus was an unaffected carrier. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32541","type":"journal-article","created":{"date-parts":[[2008,10,30]],"date-time":"2008-10-30T19:54:15Z","timestamp":1225396455000},"page":"3054-3057","source":"Crossref","is-referenced-by-count":19,"title":["Multiple congenital skull fractures as a presentation of Ehlers\u2013Danlos syndrome type VIIC"],"prefix":"10.1002","volume":"146A","author":[{"given":"Omer","family":"Bar\u2010Yosef","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sylvie","family":"Polak\u2010Charcon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chen","family":"Hoffman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zeev P.","family":"Feldman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Moshe","family":"Frydman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jacob","family":"Kuint","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2008,10,30]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1002\/(SICI)1096-8628(19980428)77:1<31::AID-AJMG8>3.0.CO;2-O","article-title":"Ehlers\u2010Danlos syndromes: Revised nosology, Villefranche, 1997. 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