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He had had spontaneous pneumothorax four times. We have found no similar case reports in the literature and suggest that this is a new syndrome, which must be differentiated from hereditary mucoepithelial dysplasia, mandibuloacral dysplasia, keratitis\u2010ichthyosis\u2010deafness syndrome, Hajdu\u2013Cheney syndrome, Penttinen syndrome, and mucopolysaccharidoses. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31543","type":"journal-article","created":{"date-parts":[[2006,11,14]],"date-time":"2006-11-14T02:16:53Z","timestamp":1163470613000},"page":"2709-2713","source":"Crossref","is-referenced-by-count":8,"title":["Blepharophimosis, corneal vascularization, deafness, and acroosteolysis: A \u201cnew\u201d syndrome?"],"prefix":"10.1002","volume":"140A","author":[{"given":"Mette","family":"Warburg","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susanne","family":"Ullman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanne","family":"Jensen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans","family":"Pedersen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takasi","family":"Kobayashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bj\u00f8rn","family":"Russell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisbeth","family":"Tranebjaerg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriele","family":"Richard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen","family":"Br\u00f8ndum\u2010Nielsen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,11,13]]},"reference":[{"key":"e_1_2_6_2_1","unstructured":"BaraitserM.2005.Geneeye Version 1.06. 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