{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,4]],"date-time":"2025-10-04T12:25:02Z","timestamp":1759580702003},"reference-count":15,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,8]],"date-time":"2005-06-08T00:00:00Z","timestamp":1118188800000},"content-version":"vor","delay-in-days":6155,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1988,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>This is the second reported case of a child with holoprosencephaly and trisomy 21. The first case was born to a diabetic woman; in our case, there was no evidence of diabetes in the mother. Most of the distinctive facial features of Down syndrome were obscured by the presence of cyclopia and a suprarbital proboscis in this infant. The relevance of chromosome analysis in cases with holoprosencephaly is discussed.<\/jats:p>","DOI":"10.1002\/ajmg.1320300408","type":"journal-article","created":{"date-parts":[[2005,9,6]],"date-time":"2005-09-06T13:32:39Z","timestamp":1126013559000},"page":"925-928","source":"Crossref","is-referenced-by-count":30,"title":["Holoprosencephaly and trisomy 21 in a child born to a nondiabetic mother"],"prefix":"10.1002","volume":"30","author":[{"given":"M.","family":"Urioste","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Valcarcel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. A.","family":"Gomez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.","family":"Pinel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R. Garcia","family":"de Le\u00f3n","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. Diaz","family":"de Bustamante","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Tebar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. L.","family":"Martinez\u2010Frias","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,8]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1987.tb02766.x"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(83)80185-1"},{"key":"e_1_2_1_4_1","first-page":"322","article-title":"Diagnosis and management of fetal holoprosencephaly","volume":"66","author":"Chervenak FA","year":"1985","journal-title":"Obstet Gynecol"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(82)80349-1"},{"key":"e_1_2_1_6_1","doi-asserted-by":"crossref","DOI":"10.1007\/978-3-7091-3338-5","volume-title":"Developmental Neuropathology","author":"Friede RL","year":"1975"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320260134"},{"key":"e_1_2_1_8_1","first-page":"1029","volume-title":"Mendelian Inheritance in Man. Catalogs of Autosomal Dominant, Autosomal Recessive and X\u2010Linked Phenotypes","author":"McKusick VA","year":"1986"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320050214"},{"key":"e_1_2_1_10_1","volume-title":"Holoprosencephaly: Birth Data, Genetic and Demographic Analysis of 30 Families","author":"Roach E","year":"1975"},{"issue":"2","key":"e_1_2_1_10_2","first-page":"294","journal-title":"BD:OAS"},{"key":"e_1_2_1_11_1","first-page":"844","volume-title":"Catalogue of Unbalanced Chromosome Aberrations in Man","author":"Schinzel A","year":"1984"},{"key":"e_1_2_1_12_1","first-page":"168","article-title":"Trisomy 3 (p23\u2192pter) resulting from maternal translocation t(3;4) (p23;q35)","volume":"21","author":"Schinzel A","year":"1978","journal-title":"Ann G\u00e9n\u00e9t"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320140206"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320240207"},{"key":"e_1_2_1_15_1","first-page":"2","volume-title":"Neurology of the Newborn","author":"Volpe JJ","year":"1987"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320300408","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320300408","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,27]],"date-time":"2023-09-27T00:35:59Z","timestamp":1695774959000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320300408"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1988,8]]},"references-count":15,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1988,8]]}},"alternative-id":["10.1002\/ajmg.1320300408"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320300408","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1988,8]]}}}