{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T10:18:53Z","timestamp":1760782733763},"reference-count":17,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4406,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1993,5,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a newborn male, born at term with clinical manifestations of oral\u2010facial\u2010digital (OFD) syndrome type I. This syndrome is generally assumed to be inherited in an X\u2010linked dominant fashion with lethality in males. Therefor, liveborn males are exceptional. This liveborn ale also had Dandy\u2010walker malforation and polycystic kidneys.<\/jats:p><jats:p>From a general point of view, distinction between the 8 types of (OFD) syndromes described so far appears subtle and considerable overlap exists between them. In this regard, it should be noted that polycystic kidneys different from adult polycystic kidney disease both macroscopically and microscopically are a frequent manifestation of OFD I. \u00a9 1993 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320460318","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T16:56:09Z","timestamp":1118508969000},"page":"335-338","source":"Crossref","is-referenced-by-count":18,"title":["Oral\u2010facial\u2010digital syndrome type I in a newborn male"],"prefix":"10.1002","volume":"46","author":[{"given":"Yves","family":"Gillerot","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marianne","family":"Heimann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Catherine","family":"Fourneau","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christine","family":"Verellen\u2010Dumoulin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lionel","family":"Van Maldergem","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":"10.1056\/NEJM196411192712101"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.24.2.84"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1988.tb02886.x"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1988.tb03426.x"},{"key":"e_1_2_1_6_1","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1136\/jmg.28.10.691","article-title":"A male with type I oro\u2010faciodigital syndrome","volume":"28","author":"Goodship J","journal-title":"J Med Genet"},{"key":"e_1_2_1_7_1","volume-title":"Syndromes of the Head and Neck","author":"Gorlin RJ","year":"1990"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(62)80143-7"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320420608"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1983.tb00067.x"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(63)80195-X"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00491969"},{"key":"e_1_2_1_13_1","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1542\/peds.40.1.63","article-title":"Oral\u2010facial\u2010digital syndrome in a chromosomally normal male","volume":"40","author":"Mandell F","year":"1967","journal-title":"Pediatrcs"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320350310"},{"key":"e_1_2_1_15_1","first-page":"209","article-title":"Une malformation h\u00e9r\u00e9ditaire de la muqueuse buccale et freins anormaux","volume":"55","author":"Papillon\u2010L\u00e9age E","year":"1954","journal-title":"Rev Stomatol (Paris)"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0272-6386(82)80027-9"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320310515"},{"key":"e_1_2_1_18_1","doi-asserted-by":"crossref","first-page":"812","DOI":"10.1542\/peds.37.5.812","article-title":"The oral\u2010facial\u2010digital syndrome: A male lethal condition in a boy with 47 XXY chromosomes","volume":"37","author":"Wahrman J","year":"1986","journal-title":"Pediatrics"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320460318","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320460318","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T03:36:33Z","timestamp":1698291393000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320460318"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,5,15]]},"references-count":17,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1993,5,15]]}},"alternative-id":["10.1002\/ajmg.1320460318"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320460318","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,5,15]]}}}