{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,9,6]],"date-time":"2024-09-06T11:45:29Z","timestamp":1725623129452},"reference-count":11,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4116,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1994,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Thrombocytopenia with absent radius (TAR) syndrome is infrequently (7%) associated with mental retardation. In those cases, the mental deficiency is presumed to be a consequence of intracranial hemorrhage due to the thrombo\u2010cytopenia. We report on 2 infants with TAR syndrome. One had developmental delay with evidence of cerebral dysgenesis by magnetic resonance imaging (MRI). Such findings have not been noted in the literature, but may not have been investigated in most cases. The other infant with TAR syndrome, who has had normal psychomotor development, has a normal brain on MRI scan. Detailed neuroimaging studies, preferably MRI, should be considered in the evaluation of patients with TAR syndrome, especially when there are documented signs of developmental delay, with or without a history of intracranial hemorrhage. \u00a9 1994 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320500111","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:02:24Z","timestamp":1118509344000},"page":"46-50","source":"Crossref","is-referenced-by-count":13,"title":["Hypoplasia of the cerebellar vermis and corpus callosum in thrombocytopenia with absent radius syndrome on MRI studies"],"prefix":"10.1002","volume":"50","author":[{"given":"Madeleine R.","family":"MacDonald","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G. Bradley","family":"Schaefer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ann Haskins","family":"Olney","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Donna F.","family":"Patton","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","first-page":"36","article-title":"Thrombocytopenia\u2013absent radius syndrome","volume":"7","author":"Bagnasco J","year":"1988","journal-title":"Proc Greenwood Genet Center"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320430510"},{"key":"e_1_2_1_4_1","first-page":"574","article-title":"Congenitale hypoplastische thrombopenie mit radial aplasie","volume":"1","author":"Gross H","year":"1956","journal-title":"Neve Osterr 2 Kinderheilkhd"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-196948060-00001"},{"issue":"38","key":"e_1_2_1_6_1","first-page":"115","article-title":"New features of thrombocytopenia and absent radius syndrome","volume":"18","author":"Hays RM","year":"1982","journal-title":"Birth Defects: Orig Art Series"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/00043426-198821000-00010"},{"key":"e_1_2_1_8_1","first-page":"211","volume-title":"Hematology of Infancy and Childhood","author":"Nathan DG","year":"1987"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1177\/088307389000500211"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1177\/088307389100600103"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1991.00530210059024"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320340214"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320500111","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320500111","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,24]],"date-time":"2023-10-24T12:26:18Z","timestamp":1698150378000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320500111"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,3]]},"references-count":11,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1994,3]]}},"alternative-id":["10.1002\/ajmg.1320500111"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320500111","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994,3]]}}}