{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,18]],"date-time":"2026-03-18T16:11:25Z","timestamp":1773850285569,"version":"3.50.1"},"reference-count":9,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,9]],"date-time":"2005-06-09T00:00:00Z","timestamp":1118275200000},"content-version":"vor","delay-in-days":3629,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1995,7,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Oculodentodigital dysplasia (ODDD) is an autosomal dominant disorder involving eye and face abnormalities, syndactyly, and enamel hypoplasia. Some individuals with ODDD also have spastic paraparesis. Previously, we reported on a woman with sporadic ODDD and progressive neurologic dysfunction who had cerebral white matter abnormalities demonstrated by magnetic resonance imaging (MRI). We now describe a 2\u2010generation family with ODDD and progressive paraparesis associated with leuko\u2010dystrophic changes documented by MRI. This family represents one of the largest pedigrees with ODDD described so far. The presence of abnormal white matter changes in both sporadic and inherited forms of ODDD suggests that the phenotype of ODDD should be expanded to include spastic paraparesis. \u00a9 1995 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320570320","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T18:03:27Z","timestamp":1118513007000},"page":"458-461","source":"Crossref","is-referenced-by-count":38,"title":["Oculodentodigital dysplasia with cerebral white matter abnormalities in a two\u2010generation family"],"prefix":"10.1002","volume":"57","author":[{"given":"Karen K.","family":"Norton","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John C.","family":"Carey","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David H.","family":"Gutmann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,9]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"758","article-title":"Intracranial calcification in oculodento\u2010osseous dysplasia","volume":"59","author":"Barnard A","year":"1981","journal-title":"South Afr Med J"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1979.tb00987.x"},{"key":"e_1_2_1_4_1","first-page":"193a","article-title":"Neurologic abnormalities in oculodentodigital dysplasia: A new finding","volume":"26","author":"Cox DR","year":"1978","journal-title":"Clin Res"},{"key":"e_1_2_1_5_1","first-page":"A82","article-title":"Central nervous system abnormalities in oculodentodigital dysplasia syndrome","volume":"55","author":"Grubbs RE","year":"1994","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320410106"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(75)80709-8"},{"key":"e_1_2_1_8_1","first-page":"668","volume-title":"Mendelian Inheritance in Man: Catalogs of Autosomal Dominant, Autosomal Recessive and X\u2010linked Phenotypes.","author":"McKusick VA","year":"1994"},{"key":"e_1_2_1_9_1","first-page":"171","article-title":"Dysplasie oculo\u2010dento\u2010digitale. A propos d'un cas avec paraplegie spasmodique","volume":"29","author":"Nivelon\u2010Chevallier A","year":"1981","journal-title":"J Genet Hum"},{"key":"e_1_2_1_10_1","first-page":"600","article-title":"Oculodentodigital dysplasia","volume":"118","author":"Reisner SH","year":"1969","journal-title":"Am J Dis Child"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320570320","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320570320","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T07:28:44Z","timestamp":1698305324000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320570320"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,7,3]]},"references-count":9,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1995,7,3]]}},"alternative-id":["10.1002\/ajmg.1320570320"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320570320","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1995,7,3]]}}}