{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T01:40:45Z","timestamp":1791855645542,"version":"4.3.4"},"reference-count":7,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,2]],"date-time":"2005-06-02T00:00:00Z","timestamp":1117670400000},"content-version":"vor","delay-in-days":8494,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1982,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe in two brothers a previously apparently unreported multiple congenital anomalies\/mental retardation (MCA\/MR) syndrome of high, prominent forehead, vertical groove on tip of nose, \u201ccowlick,\u201d ear anomalies, acrorenal field defect (incipient unilateral triphalangism, broad halluces, with unilateral renal agenesis in one of the boys), megalencephaly associated with congenital hypotonia, severe mental retardation and highly abnormal EEG without seizures, intrauterine growth retardation and primordial shortness of stature in one brother. This is a Group III (\u201cprovisionally private\u201d) MCA\/MR syndrome and presumed to be due to a Mendelian (either X\u2010linked or autosomal recessive) mutation. We do not think these patients have the FG syndrome. The condition has been named the neurofaciodigitorenal (NFDR) syndrome.<\/jats:p>","DOI":"10.1002\/ajmg.1320110309","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T18:40:04Z","timestamp":1118515204000},"page":"329-336","source":"Crossref","is-referenced-by-count":15,"title":["The neurofaciodigitorenal (NFDR) syndrome"],"prefix":"10.1002","volume":"11","author":[{"given":"Newton","family":"Freire\u2010Maia","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Pinheiro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00fcrgen","family":"Herrmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,2]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"565","article-title":"Estudos preliminares sobre uma sindrome aparentemente nova","volume":"31","author":"Freire\u2010Maia N","year":"1979","journal-title":"Ci\u011bncia e Cultura"},{"key":"e_1_2_1_3_1","first-page":"521","article-title":"Counseling in diseases produced either by autosomal or X\u2010linked recessive mutations","volume":"18","author":"Frota\u2010Pessoa O","year":"1968","journal-title":"Acta Genet Statist Med"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00439778"},{"key":"e_1_2_1_5_1","first-page":"31","article-title":"The WT syndrome \u2010 A \u201cnew\u201d autosomal dominant pleiotropic trait of radial\/ulnar hypoplasia with high risk of bone marrow failure and\/or leukemia","volume":"3","author":"Gonzalez CH","year":"1977","journal-title":"Birth Defects Original Article Series"},{"key":"e_1_2_1_6_1","first-page":"1","article-title":"Diagnostic\/genetic studies in severe mental retardation","volume":"6","author":"Opitz JM","year":"1978","journal-title":"Birth Defects Orig Art Ser"},{"key":"e_1_2_1_7_1","first-page":"813","volume-title":"Birth Defects Compendium","author":"Opitz JM","year":"1979"},{"key":"e_1_2_1_8_1","first-page":"143","volume-title":"BDO: AS","author":"Temtamy S","year":"1978"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320110309","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320110309","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,13]],"date-time":"2023-11-13T00:59:07Z","timestamp":1699837147000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320110309"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1982,3]]},"references-count":7,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1982,3]]}},"alternative-id":["10.1002\/ajmg.1320110309"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320110309","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1982,3]]}}}