{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T23:00:33Z","timestamp":1791327633576,"version":"4.3.1"},"reference-count":35,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2008,6,19]],"date-time":"2008-06-19T00:00:00Z","timestamp":1213833600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2008,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:bold>BACKGROUND:<\/jats:bold> Holoprosencephaly (HPE) is a developmental field defect of the brain that results in incomplete separation of the cerebral hemispheres that includes less severe phenotypes, such as arhinencephaly and single median maxillary central incisor. Information on the epidemiology of HPE is limited, both because few population\u2010based studies have been reported, and because small studies must observe a greater number of years in order to accumulate sufficient numbers of births for a reliable estimate. <jats:bold>METHODS:<\/jats:bold> We collected data from 2000 through 2004 from 24 of the 46 Birth Defects Registry Members of the International Clearinghouse for Birth Defects Surveillance and Research. This study is based on more than 7 million births in various areas from North and South America, Europe, and Australia. <jats:bold>RESULTS:<\/jats:bold> A total of 963 HPE cases were registered, yielding an overall prevalence of 1.31 per 10,000 births. Because the estimate was heterogeneous, possible causes of variations among populations were analyzed: random variation, under\u2010reporting and over\u2010reporting bias, variation in proportion of termination of pregnancies among all registered cases and real differences among populations. <jats:bold>CONCLUSIONS:<\/jats:bold> The data do not suggest large differences in total prevalence of HPE among the studied populations that would be useful to generate etiological hypotheses. Birth Defects Research (Part A), 2008. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/bdra.20479","type":"journal-article","created":{"date-parts":[[2008,6,19]],"date-time":"2008-06-19T16:48:33Z","timestamp":1213894113000},"page":"585-591","source":"Crossref","is-referenced-by-count":79,"title":["Frequency of holoprosencephaly in the International Clearinghouse Birth Defects Surveillance Systems: Searching for population variations"],"prefix":"10.1002","volume":"82","author":[{"given":"Emanuele","family":"Leoncini","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Baranello","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I\u00eada M.","family":"Orioli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G\u00f6ran","family":"Anner\u00e9n","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marian","family":"Bakker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabrizio","family":"Bianchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carol","family":"Bower","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark A.","family":"Canfield","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eduardo E.","family":"Castilla","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guido","family":"Cocchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adolfo","family":"Correa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"De Vigan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Berenice","family":"Doray","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcia L.","family":"Feldkamp","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miriam","family":"Gatt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorentz M.","family":"Irgens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. Brian","family":"Lowry","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alice","family":"Maraschini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Mc Donnell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margery","family":"Morgan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Osvaldo","family":"Mutchinick","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simone","family":"Poetzsch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Merilyn","family":"Riley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annukka","family":"Ritvanen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabeth Robert","family":"Gnansia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gioacchino","family":"Scarano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonin","family":"Sipek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Romano","family":"Tenconi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierpaolo","family":"Mastroiacovo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2008,6,19]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1142\/9789812830418_0003"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.38300.665301.3A"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1067\/mob.2001.111071"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1159\/000080776"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20495"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.20295"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960823)64:3<465::AID-AJMG4>3.0.CO;2-O"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000214)90:4<320::AID-AJMG11>3.0.CO;2-8"},{"key":"e_1_2_6_10_1","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1542\/peds.34.2.256","article-title":"The Face Predicts The Brain: Diagnostic Significance Of Median Facial Anomalies For Holoprosencephaly (Arhinencephaly)","volume":"34","author":"De Myer W","year":"1964","journal-title":"Pediatrics"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0368-2315(05)82665-1"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-2-8"},{"key":"e_1_2_6_13_1","unstructured":"Eurocat.2007.http:\/\/www.eurocat.ulster.ac.uk\/. Last visited on November 4 2007."},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.20212"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-3016.2000.00211.x"},{"key":"e_1_2_6_16_1","first-page":"81","volume-title":"A primer of statistics for non\u2010statisticians","author":"Franzblau A","year":"1958"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(99)00067-4"},{"key":"e_1_2_6_18_1","unstructured":"ICBDSR.2005. International Clearinghouse for Birth Defects Surveillance and Research. Annual Report 2005. Romawww.icbdsr.org"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0412.2000.079006435.x"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1515\/REVEH.2005.20.1.57"},{"key":"e_1_2_6_21_1","first-page":"1155","article-title":"Alberta Congenital Anomalies Surveillance System","volume":"141","author":"Lowry RB","year":"1989","journal-title":"Canad Med Assoc J"},{"key":"e_1_2_6_22_1","first-page":"71","volume-title":"Proceedings of the First International Meeting of the Genetic and Reproductive Epidemiology Research Society","author":"Mastroiacovo P","year":"1992"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/tera.1420160304"},{"key":"e_1_2_6_24_1","first-page":"265","article-title":"Malformations and their classification","volume":"17","author":"Mitani S","year":"1963","journal-title":"Sanfujinka Chiryo"},{"key":"e_1_2_6_25_1","first-page":"1","article-title":"Congenital malformations in singletons: epidemiologic survey. Report from the Collaborative Perinatal project","volume":"10","author":"Myrianthopoulos NC","year":"1974","journal-title":"Birth Defects Orig Artic Ser"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19971212)73:2<217::AID-AJMG20>3.0.CO;2-S"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1677"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32104"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9378(86)90075-X"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19961218)66:3<320::AID-AJMG16>3.0.CO;2-O"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-1754.2004.00460.x"},{"key":"e_1_2_6_32_1","first-page":"294","article-title":"Holoprosencephaly: birth data, benetic and demographic analyses of 30 families","volume":"11","author":"Roach E","year":"1975","journal-title":"Birth Defects Orig Artic Ser"},{"key":"e_1_2_6_33_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.21.1.21"},{"key":"e_1_2_6_34_1","unstructured":"STAKES.2007.http:\/\/www.stakes.fi\/EN\/tilastot\/qualityreports\/congenital\u2010anomalies.htm"},{"key":"e_1_2_6_35_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320300408"},{"key":"e_1_2_6_36_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.33.7.578"}],"container-title":["Birth Defects Research Part A: Clinical and Molecular Teratology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fbdra.20479","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/bdra.20479","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,14]],"date-time":"2023-11-14T10:36:13Z","timestamp":1699958173000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/bdra.20479"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,6,19]]},"references-count":35,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2008,8]]}},"alternative-id":["10.1002\/bdra.20479"],"URL":"https:\/\/doi.org\/10.1002\/bdra.20479","archive":["Portico"],"relation":{},"ISSN":["1542-0752","1542-0760"],"issn-type":[{"value":"1542-0752","type":"print"},{"value":"1542-0760","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,6,19]]}}}