{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T20:53:04Z","timestamp":1789764784393,"version":"4.0.1"},"reference-count":5,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":7550,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1984,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>We report on a 2\u2010month\u2010old girl whose parents are first cousins. The patient has severe craniofacial anomalies characterized by: encephalocele, hypertelorism, midface hypoplasia, hypoplasia of frontal bone on the left side, malformed left eye, absent inner eyelashes, irregular S\u2010shaped palpebral fissures, deformed nostrils, hypoplastic right nasal wing and cleft lip, and clefts of premaxilla, palate and uvula. No other malformations were observed. This association of anomalies suggests the diagnosis of frontofacionasal dysplasia. Parental consanguinity suggests autosomal recessive inheritance.<\/jats:p>","DOI":"10.1002\/ajmg.1320190212","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T15:53:03Z","timestamp":1118505183000},"page":"301-305","source":"Crossref","is-referenced-by-count":20,"title":["Frontofacionasal dysplasia: Evidence for autosomal recessive inheritance"],"prefix":"10.1002","volume":"19","author":[{"given":"T. R.","family":"Gollop","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. M.","family":"Kiota","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. M. M.","family":"Martins","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E. A.","family":"Lucchesi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Alvarenga F0","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"issue":"5","key":"e_1_2_1_2_1","first-page":"85","article-title":"Craniofrontonasal dysplasia","author":"Cohen MM","year":"1979","journal-title":"Bd:Oas"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.17.10.961"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320100415"},{"key":"e_1_2_1_5_1","volume-title":"Syndrome of the Head and Neck","author":"Gorlin RJ","year":"1976"},{"key":"e_1_2_1_6_1","volume-title":"Mendelian Inheritance in Man","author":"McKusick VA","year":"1983"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320190212","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320190212","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,19]],"date-time":"2023-10-19T21:00:36Z","timestamp":1697749236000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320190212"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1984,10]]},"references-count":5,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1984,10]]}},"alternative-id":["10.1002\/ajmg.1320190212"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320190212","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1984,10]]}}}