{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:06:10Z","timestamp":1761717970108},"reference-count":13,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,6]],"date-time":"2005-06-06T00:00:00Z","timestamp":1118016000000},"content-version":"vor","delay-in-days":4997,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1991,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Oculodentodigital dysplasia (ODDD) syndrome is an uncommon inherited disorder with eye and facial abnormalities, syndactyly, and defects in tooth enamel. Some of the previously reported patients with ODDD syndrome also manifested spastic quadriparesis. We describe a patient with sporadic ODDD syndrome referred for evaluation of progressive spastic paraparesis. Magnetic resonance imaging of the brain demonstrated abnormal white matter, which suggests an explanation for the observed spastic paraparesis.<\/jats:p>","DOI":"10.1002\/ajmg.1320410106","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T04:26:45Z","timestamp":1118550405000},"page":"18-20","source":"Crossref","is-referenced-by-count":46,"title":["Oculodentodigital dysplasia syndrome associated with abnormal cerebral white matter"],"prefix":"10.1002","volume":"41","author":[{"given":"David H.","family":"Gutmann","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elaine H.","family":"Zackai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Donna M.","family":"McDonald\u2010McGinn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenneth H.","family":"Fischbeck","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John","family":"Kamholz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,6]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"758","article-title":"Intracranial calcification in oculodento\u2010osseus 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":"203","article-title":"Oculodentodigital dysplasia","volume":"94","author":"Dudgeon J","year":"1974","journal-title":"Trans Ophthalmol Soc UK"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1964.00970010203009"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(63)80304-2"},{"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","volume-title":"Mendelian Inheritance in Man: Catalogs of Autosomal Dominant, Autosomal Recessive and X\u2010Linked Phenotypes","author":"McKusick VA","year":"1988"},{"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":"224","article-title":"Hereditary oculodentosseous dysplasia","volume":"9","author":"Ragic DS","year":"1966","journal-title":"Ann Radiol"},{"key":"e_1_2_1_11_1","first-page":"600","article-title":"Oculodentodigital dysplasia","volume":"118","author":"Reisner SH","year":"1969","journal-title":"Am J Dis Child"},{"key":"e_1_2_1_12_1","first-page":"284","article-title":"Penetrance of von Recklinghausen neurofibromatosis: a distinction between predecessors and descendants","volume":"42","author":"Riccardi VM","year":"1988","journal-title":"Am J Human Genet"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9394(66)90484-3"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320240111"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320410106","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320410106","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T05:05:05Z","timestamp":1698037505000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320410106"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1991,10]]},"references-count":13,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1991,10]]}},"alternative-id":["10.1002\/ajmg.1320410106"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320410106","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1991,10]]}}}