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Although the findings resemble the recently defined macrocephaly cutis marmorata syndrome, some findings suggest that this might be a new disorder. Differential diagnosis are discussed, with a review of the literature. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.10705","type":"journal-article","created":{"date-parts":[[2002,12,20]],"date-time":"2002-12-20T14:07:23Z","timestamp":1040393243000},"page":"184-187","source":"Crossref","is-referenced-by-count":12,"title":["Child with overgrowth, pigmentary streaks, polydactyly, and intestinal lymphangiectasia: Macrocephaly\u2013cutis marmorata telangiectatica congenita syndrome or new disorder?"],"prefix":"10.1002","volume":"116A","author":[{"given":"Andr\u00e9","family":"M\u00e9garban\u00e9","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joseph","family":"Haddad","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stanislass","family":"Lyonnet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jill","family":"Clayton\u2010Smith","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2002,9,5]]},"reference":[{"doi-asserted-by":"publisher","key":"e_1_2_4_2_1","DOI":"10.1097\/00019605-200009030-00011"},{"doi-asserted-by":"publisher","key":"e_1_2_4_3_1","DOI":"10.1097\/00019605-199610000-00010"},{"issue":"1","key":"e_1_2_4_4_1","first-page":"187","article-title":"Macrocephaly\u2013cutis marmorata telangiectatica congenital (M\u2010CMTC) syndrome can be caused by diploidy\/tetraploidy skin mosaicism","volume":"8","author":"Bottani A","year":"2000","journal-title":"Eur J Hum Genet"},{"doi-asserted-by":"publisher","key":"e_1_2_4_5_1","DOI":"10.1002\/(SICI)1096-8628(19980305)76:2<165::AID-AJMG10>3.0.CO;2-J"},{"doi-asserted-by":"publisher","key":"e_1_2_4_6_1","DOI":"10.1097\/00019605-199710000-00001"},{"doi-asserted-by":"publisher","key":"e_1_2_4_7_1","DOI":"10.1136\/adc.78.3.200"},{"doi-asserted-by":"publisher","key":"e_1_2_4_8_1","DOI":"10.1007\/BF01991917"},{"doi-asserted-by":"publisher","key":"e_1_2_4_9_1","DOI":"10.1002\/(SICI)1096-8628(20000214)90:4<265::AID-AJMG1>3.0.CO;2-S"},{"doi-asserted-by":"publisher","key":"e_1_2_4_10_1","DOI":"10.1002\/(SICI)1096-8628(19970502)70:1<67::AID-AJMG13>3.0.CO;2-V"},{"doi-asserted-by":"publisher","key":"e_1_2_4_11_1","DOI":"10.1002\/(SICI)1096-8628(19961211)66:2<144::AID-AJMG4>3.0.CO;2-R"},{"doi-asserted-by":"publisher","key":"e_1_2_4_12_1","DOI":"10.1097\/00019605-200009010-00001"},{"doi-asserted-by":"publisher","key":"e_1_2_4_13_1","DOI":"10.1016\/S0022-3476(75)80634-2"},{"doi-asserted-by":"publisher","key":"e_1_2_4_14_1","DOI":"10.1097\/00019605-199910000-00009"},{"key":"e_1_2_4_15_1","first-page":"245","article-title":"The macrocephaly\u2013cutis marmorata telangiectatica congenita syndrome. Long term follow\u2010up data in 4 children and adolescents","volume":"9","author":"Vogels A","year":"1998","journal-title":"Genet Couns"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.10705","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.10705","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,16]],"date-time":"2023-11-16T21:37:11Z","timestamp":1700170631000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.10705"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,9,5]]},"references-count":14,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2003,1,15]]}},"alternative-id":["10.1002\/ajmg.a.10705"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.10705","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"type":"print","value":"1552-4825"},{"type":"electronic","value":"1552-4833"}],"subject":[],"published":{"date-parts":[[2002,9,5]]}}}