{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,25]],"date-time":"2026-04-25T08:10:06Z","timestamp":1777104606003,"version":"3.51.4"},"reference-count":11,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":7368,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1985,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe two sibs born to a consanguineous couple. Among other clinical findings both have mental retardation, short stature, facial and skeletal abnormalities characterized by hypertelorism, broad notched nasal tip, cleft lip\/palate, campto\u2010brachy\u2010poly\u2010syndactyly, fibular hypoplasia, and marked anomalies of foot structures. Facial signs of the reported patients resemble those present in the fronto\u2010nasal \u201cdysplasia\u201d syndrome; however, the whole clinical picture in the present patients suggests a true MCA\/MR syndrome, most likely inherited as an autosomal recessive trait. Climcal and genetic aspects of the present family are discussed.<\/jats:p>","DOI":"10.1002\/ajmg.1320200409","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T19:57:59Z","timestamp":1118519879000},"page":"631-638","source":"Crossref","is-referenced-by-count":25,"title":["A previously undescribed autosomal recessive multiple congenital anomalies\/mental retardation (MCA\/MR) syndrome with fronto\u2010nasal dysostosis, cleft lip\/palate, limb hypoplasia, and postaxial poly\u2010syndactyly: Acro\u2010fronto\u2010facio\u2010nasal dysostosis syndrome"],"prefix":"10.1002","volume":"20","author":[{"given":"A.","family":"Richieri\u2010Costa","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G. M. D. D.","family":"Colletto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T. R.","family":"Gollop","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Masiero","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Opitz","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":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/00006534-196512000-00007"},{"key":"e_1_2_1_3_1","first-page":"306","article-title":"Syndromes with cleft lip and cleft palate","volume":"15","author":"Cohen MM","year":"1978","journal-title":"Cieft Palate J"},{"key":"e_1_2_1_4_1","unstructured":"CollettoGMDD(1984) Unpublished data."},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.17.10.961"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320150416"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/00006534-197605000-00001"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/00006534-196905000-00005"},{"key":"e_1_2_1_9_1","first-page":"112","volume-title":"Estudo gen\u00e9tico\u2010cl\u00ednico das disostoses mandibulofacial e frontofacionasal","author":"Gollop TR","year":"1981"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320120408"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(70)80374-2"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/tera.1420080307"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320200409","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320200409","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,20]],"date-time":"2023-10-20T13:52:53Z","timestamp":1697809973000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320200409"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1985,4]]},"references-count":11,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1985,4]]}},"alternative-id":["10.1002\/ajmg.1320200409"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320200409","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1985,4]]}}}