{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T03:55:49Z","timestamp":1790394949345,"version":"4.1.0"},"reference-count":16,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,8,11]],"date-time":"2005-08-11T00:00:00Z","timestamp":1123718400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2005,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a 3\u2010year\u2010old girl with Michels syndrome, a rare condition characterized by craniosynostosis, blepharophimosis, ptosis, epicanthus inversus, cleft lip\/palate, abnormal supra\u2010umbilical abdominal wall, and mental deficiency. The phenotypic findings are compared with the six previously reported Michels cases, and with patients referred to as Carnevale, OSA, and Malpuech syndromes. Michels syndrome is characterized by cleft lip and palate, anterior chamber anomalies, blepharophimosis, epicanthus inversus, and craniosynostosis. Carnevale syndrome shows hypertelorism, downslanting palpebral fissures, ptosis, strabismus synophrys, large and fleshy ears, and lozenge\u2010shaped diastasis around the umbilicus. OSA syndrome resembles Carnevale, with humeroradial synostoses, and spinal anomalies as extra features. Malpuech syndrome shows IUGR, hypertelorism, cleft lip and palate, micropenis, hypospadias, renal anomalies, and caudal appendage. All are autosomal recessive. Despite the presence of apparently distinctive key features, it appears that these four entities share multiple similarities in the facial Gestalt and the pattern of MCA. Those similarities lead us to postulate that they belong to the same spectrum, which could be referred to as \u201c3MC syndrome\u201d (Malpuech\u2010Michels\u2010Mingarelli\u2010Carnevale syndrome). \u00a9 2005 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30878","type":"journal-article","created":{"date-parts":[[2005,8,11]],"date-time":"2005-08-11T21:16:56Z","timestamp":1123795016000},"page":"332-335","source":"Crossref","is-referenced-by-count":41,"title":["Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: Variable expression of a single disorder (3MC syndrome)?"],"prefix":"10.1002","volume":"137A","author":[{"given":"Luigi","family":"Titomanlio","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Selim","family":"Bennaceur","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominique","family":"Bremond\u2010Gignac","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clarisse","family":"Baumann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivier","family":"Dupuy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alain","family":"Verloes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,8,11]]},"reference":[{"key":"e_1_2_5_2_1","first-page":"238","article-title":"Anterior segment anomalies of the eye, clefting and skeletal abnormalities in two sibs of consanguineous parents: Michels syndrome or New syndrome?","volume":"3","author":"al Gazali LI","year":"1994","journal-title":"Clin Dysmorphol"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320330210"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.3109\/13816818409006114"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990917)86:3<294::AID-AJMG20>3.0.CO;2-2"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/84781"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320370108"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9394(14)76861-8"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320580104"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320570302"},{"key":"e_1_2_5_11_1","first-page":"A675","article-title":"Malpuech syndrome and ocular\u2010skeletal\u2010abdominal abnormalities (OSA syndrome) are the same: Case Report","volume":"75","author":"Hall B","year":"2004","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_12_1","first-page":"13","article-title":"Case report 3","volume":"1","author":"Jones KL","year":"1973","journal-title":"Synd Ident"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320160405"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(78)81154-8"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.33.10.884"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200104000-00009"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20001127)95:3<291::AID-AJMG21>3.0.CO;2-H"}],"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.30878","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.30878","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,16]],"date-time":"2023-11-16T17:19:28Z","timestamp":1700155168000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30878"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,8,11]]},"references-count":16,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2005,9]]}},"alternative-id":["10.1002\/ajmg.a.30878"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.30878","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,8,11]]}}}