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Additional features include alopecia or sparse hair, hypoplastic malar region, redundant skin, rudimentary nipples, abnormal genitalia. While the AMS phenotype is well delineated in infants and children, clinical manifestations are rather poorly characterized in adulthood. Here, we report on an Italian woman who received a diagnosis of AMS at the age of 46 years after several surgical treatments. A clinical comparison between our patient and previously reported AMS cases aids in delineating the adult phenotype of AMS and further broadens the clinical spectrum of this condition. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20658","type":"journal-article","created":{"date-parts":[[2004,4,15]],"date-time":"2004-04-15T22:03:42Z","timestamp":1082066622000},"page":"96-98","source":"Crossref","is-referenced-by-count":17,"title":["Ablepharon\u2010macrostomia syndrome in a 46\u2010year\u2010old woman"],"prefix":"10.1002","volume":"127A","author":[{"given":"Francesco","family":"Brancati","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rita","family":"Mingarelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Sarkozy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bruno","family":"Dallapiccola","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,1,27]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1540"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/00002341-199512000-00012"},{"key":"e_1_2_4_4_1","first-page":"428","article-title":"Familial occurrence of ablepharon macrostomia syndrome: Eyelid structure and surgical considerations","volume":"118","author":"Cruz AA","year":"2000","journal-title":"Arch Ophthalmol"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20001002)94:4<281::AID-AJMG3>3.0.CO;2-S"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9394(14)77956-5"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0007-1226(88)90084-7"},{"key":"e_1_2_4_8_1","first-page":"A66","article-title":"Ablepharon macrostomia syndrome: Report of a case and clinical delineation [Abstract]","volume":"47","author":"Markouizos D","year":"1990","journal-title":"Am J Hum Genet"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.1977.tb07999.x"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02267081"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.75.5.317"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10123"}],"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.20658","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.20658","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.20658","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.20658","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,24]],"date-time":"2023-08-24T12:52:14Z","timestamp":1692881534000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.20658"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,1,27]]},"references-count":11,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2004,5,15]]}},"alternative-id":["10.1002\/ajmg.a.20658"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.20658","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,1,27]]}}}