{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T15:44:31Z","timestamp":1759333471072},"reference-count":11,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,9]],"date-time":"2005-06-09T00:00:00Z","timestamp":1118275200000},"content-version":"vor","delay-in-days":6614,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1987,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The ankyloblepharon\u2010ectodermal defects\u2010cleft lip and palate (Hay\u2010Wells) syndrome is a rare autosomal dominant form of congenital ectodermal dysplasia. It is characterized by coarse, wiry, sparse hair; dystrophic nails; slight hypohidrosis; scalp infections; ankyloblepharon filiforme adnatum; hypodontia; maxillary hypoplasia; and cleft lip and palate. To date, 12 patients have been reported; however, the diagnosis has been questioned in 3 of these patients. We report 2 additional patients, one of whom has nasal speech but not cleft palate, in contrast to all other reported patients. This entity must be distinguished from numerous other forms of ectodermal dysplasia, especially those forms that can be associated with oral clefts and\/or ankyloblepharon.<\/jats:p>","DOI":"10.1002\/ajmg.1320270123","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T02:48:11Z","timestamp":1118544491000},"page":"207-212","source":"Crossref","is-referenced-by-count":34,"title":["Variable expression in ankyloblepharon\u2013ectodermal defects\u2013cleft lip and palate syndrome"],"prefix":"10.1002","volume":"27","author":[{"given":"Steven L.","family":"Greene","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Virginia V.","family":"Michels","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John A.","family":"Doyle","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,9]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1976.tb01547.x"},{"key":"e_1_2_1_3_1","first-page":"366","article-title":"Zum Syndrom: Unkammbare Haare: Beobachtung von sechs Mitgliedern einer Familie mit Pili canaliculi, verbunden mit Pili torti, progredienter Alopezie, atopischem Ekzem und Hamartomen","volume":"33","author":"Braun\u2010Falco O","year":"1982","journal-title":"Hautarzt"},{"key":"e_1_2_1_4_1","volume-title":"Ectodermal Dysplasias: A Clinical and Genetic Study","author":"Freire\u2010Maia N","year":"1984"},{"key":"e_1_2_1_5_1","first-page":"549","article-title":"Properties of hair keratin in an autosomal dominant form of ectodermal dysplasia","volume":"24","author":"Gold RJM","year":"1972","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.1976.tb04384.x"},{"key":"e_1_2_1_7_1","first-page":"644","volume-title":"Men\u2010delian Inheritance in Man: Catalogs of Autosomal Dominant, Autosomal Recessive, and X\u2010Linked Phenotypes","author":"McKusick VA","year":"1983"},{"key":"e_1_2_1_8_1","series-title":"BD:OAS","first-page":"13","volume-title":"Numerical Taxonomy of Birth Defects and Polygenic Disorders","author":"Pinsky L","year":"1977"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1961.01840020116019"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0007-1226(61)80036-2"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1980.02130200021008"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0190-9622(85)70100-4"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320270123","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320270123","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,21]],"date-time":"2023-10-21T13:17:04Z","timestamp":1697894224000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320270123"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1987,5]]},"references-count":11,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1987,5]]}},"alternative-id":["10.1002\/ajmg.1320270123"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320270123","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1987,5]]}}}