{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,30]],"date-time":"2025-11-30T09:05:17Z","timestamp":1764493517893},"reference-count":4,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4328,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1993,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a child, born to a consanguineous parents, who presented with a multiple congenital anomalies (MCA) pattern consisting of severe hypertrichosis, macrostomia, ectropion, and atrophic skin. To our knowledge this is the third case with this combination of defects. The two previous cases were reported by Barber et al. [<jats:italic>Syndrome Identification<\/jats:italic> VIII(1):6\u20139, 1982], and David et al. [<jats:italic>Am J Med Genet<\/jats:italic> 41:192\u2013195, 1991]. \u00a9 1993 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320470105","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:05:55Z","timestamp":1118509555000},"page":"20-23","source":"Crossref","is-referenced-by-count":31,"title":["Hypertrichosis, atrophic skin, ectropion, and macrostomia (Barber\u2010Say syndrome): Report of a new case"],"prefix":"10.1002","volume":"47","author":[{"given":"S. Mart\u00ednez","family":"Santana","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F. P\u00e9rez","family":"Alvarez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. L.","family":"Fr\u00edas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.\u2010L.","family":"Mart\u00ednez\u2010Fr\u00edas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"issue":"1","key":"e_1_2_1_2_1","first-page":"6","article-title":"Macrostomia, ectropion, atrophic skin, and growth retardation","author":"Barber N","year":"1982","journal-title":"Syndrome Identification"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320390124"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320410212"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(78)81077-4"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320470105","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320470105","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,24]],"date-time":"2023-10-24T20:04:59Z","timestamp":1698177899000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320470105"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,8]]},"references-count":4,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1993,8]]}},"alternative-id":["10.1002\/ajmg.1320470105"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320470105","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,8]]}}}