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We describe the clinical features of 13 cases, report on the genome\u2010wide Copy Number Variation characterization of these patients, analyze the main clinical features of this syndrome and propose a modification of the current diagnostic criteria: the inclusion of both overgrowth\/asymmetry and neuroimaging alterations as major criteria. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33514","type":"journal-article","created":{"date-parts":[[2010,11,12]],"date-time":"2010-11-12T14:22:20Z","timestamp":1289571740000},"page":"3101-3106","source":"Crossref","is-referenced-by-count":53,"title":["Macrocephaly\u2013capillary malformation: Analysis of 13 patients and review of the diagnostic criteria"],"prefix":"10.1002","volume":"152A","author":[{"given":"V\u00edctor","family":"Mart\u00ednez\u2010Glez","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valeria","family":"Romanelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda A.","family":"Mori","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ricardo","family":"Gracia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mabel","family":"Segovia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Gonz\u00e1lez\u2010Meneses","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan C.","family":"L\u00f3pez\u2010Gutierrez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esther","family":"Gean","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Loreto","family":"Martorell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pablo","family":"Lapunzina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2010,11,12]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20198"},{"key":"e_1_2_6_3_1","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1684\/ejd.2008.0582","article-title":"Macrocephaly\u2010cutis marmorata telangiectatica congenita","volume":"19","author":"Bagazgoitia L","year":"2009","journal-title":"Eur J Dermatol"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0b013e3283136948"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199710000-00001"},{"key":"e_1_2_6_6_1","first-page":"296","article-title":"Surgical management of cerebellar tonsillar herniation in three patients with macrocephaly\u2010cutis marmorata telangiectatica congenita. 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