{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T08:02:44Z","timestamp":1698307364190},"reference-count":11,"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":4963,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1991,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe 3 patients with a new malformation syndrome in 2 sibships in a large kindred from Bahia, Brazil. The parents in both sibships are consanguineous. The syndrome is characterized by malformations of the face, ears, hands and feet, plus mixed deafness and pseudopapilledema. Fifty\u2010four relatives were examined clinically and scored by the number of anomalies. A control sample of 54 individuals was equally examined. The distribution of the number of anomalies per individual (score) is bimodal in the relatives of the patients but unimodal in the control individuals. Detection of heterozygotes was based on the score distribution.<\/jats:p>","DOI":"10.1002\/ajmg.1320410202","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T03:45:45Z","timestamp":1118547945000},"page":"141-152","source":"Crossref","is-referenced-by-count":3,"title":["Autosomal recessive malformation syndrome with minor manifestation in the heterozygotes: A preliminary report of a possible new syndrome"],"prefix":"10.1002","volume":"41","author":[{"given":"Auristela F.","family":"Paes\u2010Alves","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eliane S.","family":"Azev\u00eado","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria das Gra\u00e7as F.","family":"Sousa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Neli","family":"Almeida\u2010Melo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Os\u00f3rio J.","family":"Oliveira\u2010Filho","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"issue":"3","key":"e_1_2_1_2_1","first-page":"43","article-title":"Oto\u2010palato\u2010digital syndrome. The first Conference on the Clinical Delineation of Birth Defects, Part III Limb Malformations","author":"Aase JM","year":"1969","journal-title":"BD:OAS"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1159\/000152884"},{"key":"e_1_2_1_4_1","first-page":"952","article-title":"The effects of some biological characteristics on Legg Calv\u00e9 Perthes disease in Bahia, Brazil","volume":"28","author":"Alves AFP","year":"1976","journal-title":"Ci\u011bncia Cultura"},{"key":"e_1_2_1_5_1","first-page":"329","article-title":"Spread and diversity of human population in Bahia, Brazil","volume":"54","author":"Azev\u011bdo ES","year":"1982","journal-title":"Hum Biol"},{"key":"e_1_2_1_6_1","first-page":"233","article-title":"For\u00e7as econ\u00f4micas e estruturagen\u00e9tica de popula\u00e7\u00f5es nordestinas","volume":"12","author":"Azev\u011bdo ES","year":"1987","journal-title":"Interci\u011bncia"},{"key":"e_1_2_1_7_1","first-page":"3","article-title":"Dermal configurations in the diagnosis of the Down syndrome: an attempt at a simplified scoring method","volume":"15","author":"Beckman L","year":"1965","journal-title":"Acta Genet"},{"key":"e_1_2_1_8_1","first-page":"284","article-title":"Inbreeding in Brazil","volume":"9","author":"Freire\u2010Maia N","year":"1957","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_9_1","first-page":"105","article-title":"Consanguineous marriages in Brazil. I. Structure of such marriages. II. Factors of geographic distribution","volume":"5","author":"Freire\u2010Maia N","year":"1958","journal-title":"Eng Q"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1967.02090170078006"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1965.tb00507.x"},{"issue":"7","key":"e_1_2_1_12_1","first-page":"273","article-title":"The otopalatodigital (OPD) syndrome:(Conductive deafness, cleft palate and anomaly of digits). The Third Conference on the Clinical Delineation of Birth Defects, Part XI. Orofacial Structures","author":"Nager GT","year":"1971","journal-title":"BD: OAS"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320410202","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320410202","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T06:12:27Z","timestamp":1698041547000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320410202"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1991,11]]},"references-count":11,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1991,11]]}},"alternative-id":["10.1002\/ajmg.1320410202"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320410202","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1991,11]]}}}