{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,4]],"date-time":"2025-11-04T22:55:21Z","timestamp":1762296921137},"reference-count":13,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,5]],"date-time":"2005-06-05T00:00:00Z","timestamp":1117929600000},"content-version":"vor","delay-in-days":5544,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1990,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We performed clinical and autopsy studies on 3 sibs with an acrofacial dysostosis (AFD) syndrome. All 3 died neonatally from respiratory complications derived from their severe mandibular hypoplasia. They presented a malformation syndrome characterized by mandibulofacial dysostosis, predominantly preaxial limb deficiencies, rare postaxial limb anomalies, shoulder\/pelvis girdle hypoplasia, and cardiac and CNS malformations. This syndromal form of AFD could represent a distinct entity with autosomal\u2010recessive inheritance. Its delineation from other AFD syndromes is discussed.<\/jats:p>","DOI":"10.1002\/ajmg.1320350408","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T03:44:37Z","timestamp":1118547877000},"page":"484-489","source":"Crossref","is-referenced-by-count":55,"title":["New acrofacial dysostosis syndrome in 3 sibs"],"prefix":"10.1002","volume":"35","author":[{"given":"Jos\u00e9 Ignacio","family":"Rodr\u00edguez","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9","family":"Palacios","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miguel","family":"Urioste","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,5]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"353","article-title":"Acrofacial dysostosis: A new type?","volume":"10","author":"Brunoni D","year":"1987","journal-title":"Rev Bras Genet"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(81)80546-X"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320290126"},{"key":"e_1_2_1_5_1","first-page":"45","article-title":"Une forme extensive de dysostose mandibulofaciale","volume":"17","author":"Gen\u00e9e E","year":"1969","journal-title":"J Genet Hum"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320140203"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320250626"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320270423"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(79)80285-1"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320270425"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320270427"},{"key":"e_1_2_1_12_1","first-page":"713","article-title":"Dysostose mandibulofaciale et ulnofibulare l\u00e9thale","volume":"30","author":"Poissonnier M","year":"1983","journal-title":"Ann Pediat (Paris)"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320250618"},{"key":"e_1_2_1_14_1","doi-asserted-by":"crossref","unstructured":"Rodr\u00edguezJI PalaciosJ(1989): Severe postaxial acrofacial dysostosis syndrome. An anatomic and angiographic study.Am J Med Genet(this issue).","DOI":"10.1002\/ajmg.1320350409"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320350408","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320350408","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,22]],"date-time":"2023-10-22T10:58:39Z","timestamp":1697972319000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320350408"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1990,4]]},"references-count":13,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1990,4]]}},"alternative-id":["10.1002\/ajmg.1320350408"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320350408","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1990,4]]}}}