{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,12,9]],"date-time":"2023-12-09T16:07:07Z","timestamp":1702138027402},"reference-count":18,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4024,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1994,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe two mentally retarded brothers with craniofacial anomalies, polydactyly, and other clinical manifestations compatible with the acrocallosal syndrome (ACS). These are the first black patients from Africa with this diagnosis. They are also the fourth set of sibs described with ACS, and together with the parental consanguinity documented in this family, confirm autosomal recessive inheritance of this syndrome. The clinical manifestations in our patients confirm the intrafamilial variability of the syndrome. Postnatal onset of growth retardation is proposed as an additional manifestation of ACS. \u00a9 1994 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320510204","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:12:13Z","timestamp":1118509933000},"page":"98-101","source":"Crossref","is-referenced-by-count":6,"title":["Acrocallosal syndrome in two African brothers born to consanguineous parents"],"prefix":"10.1002","volume":"51","author":[{"given":"Arnold L.","family":"Christianson","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Philip A.","family":"Venter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joan L.","family":"Du Toit","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nancy","family":"Shipalana","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"George S.","family":"Gericke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320320306"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02072231"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02026715"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320430606"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320350325"},{"key":"e_1_2_1_7_1","first-page":"239","article-title":"Schinzel acrocallosal syndrome: A variant example of the Greig syndrome?","volume":"28","author":"Legius E","year":"1985","journal-title":"Ann Genet"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320320305"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320120209"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00442226"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320320303"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320200115"},{"key":"e_1_2_1_13_1","first-page":"141","article-title":"Postaxial polydactyly, hallux duplication, absence of the corpus callosum and severe mental retardation: A new syndrome?","volume":"34","author":"Schinzel A","year":"1979","journal-title":"Helv Pediatr Acta"},{"key":"e_1_2_1_14_1","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1111\/j.1399-0004.1986.tb01897.x","article-title":"The acrocallosal syndrome in sisters","volume":"30","author":"Schinzel A","year":"1986","journal-title":"Clin Genet"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.25.5.332"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320060308"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320320304"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.8.516"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.1.48"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320510204","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320510204","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,24]],"date-time":"2023-10-24T13:37:09Z","timestamp":1698154629000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320510204"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,6]]},"references-count":18,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1994,6]]}},"alternative-id":["10.1002\/ajmg.1320510204"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320510204","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994,6]]}}}