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Genet."],"published-print":{"date-parts":[[1982,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>As holoprosencephaly without chromosome defect may be associated with other CNS\u2010related anomalies such as mental retardation, mental illness, facial paralysis, endocrine disorders, deafness, spina bifida, and myelomeningocele, we present a family in which one girl had a myelomeningocele, a brother had orbital hypotelorism, facial and cerebral asymmetries, cerebral palsy, abducens paralysis, and inner ear deafness. A 3rd pregnancy was terminated at 16 weeks; the fetus had cyclopia. A common cause is discussed in these cases and in those families in which holoprosencephaly and additional malformations occur among different generations.<\/jats:p>","DOI":"10.1002\/ajmg.1320110409","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T18:41:34Z","timestamp":1118515294000},"page":"443-448","source":"Crossref","is-referenced-by-count":15,"title":["Occurrence of cyclopia, myelomeningocele, deafness, and abducens paralysis in siblings"],"prefix":"10.1002","volume":"11","author":[{"given":"Uta","family":"Burck","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karsten R.","family":"Held","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hans\u2010J.","family":"Kitschke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,2]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320090104"},{"issue":"6","key":"e_1_2_1_3_1","first-page":"215","article-title":"Dominant inheritance of holoprosencephaly","volume":"14","author":"Cant\u00fa JM","year":"1978","journal-title":"Birth Defects"},{"issue":"7","key":"e_1_2_1_4_1","first-page":"125","article-title":"Holoprosencephaly and facial dysmorphia: Nosology, etiology and pathogenesis","volume":"7","author":"Cohen MM","year":"1971","journal-title":"Birth Defects"},{"key":"e_1_2_1_5_1","first-page":"597","article-title":"Holoprosencephaly revisited","volume":"127","author":"Cohen MM","year":"1974","journal-title":"Am J Dis Child"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1148\/74.2.206"},{"issue":"7","key":"e_1_2_1_7_1","first-page":"136","article-title":"Familial holoprosencephaly","volume":"7","author":"Dallaire L","year":"1971","journal-title":"Birth Defects"},{"key":"e_1_2_1_8_1","first-page":"431","volume-title":"Handbook of Clinical Neurology","author":"DeMyer W","year":"1977"},{"key":"e_1_2_1_9_1","first-page":"138","article-title":"Zur Aetiologie der Arhinencephalie","volume":"12","author":"Grebe H","year":"1944","journal-title":"Erbarzt"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.1970.tb01862.x"},{"key":"e_1_2_1_11_1","first-page":"59","article-title":"Famili\u00e4res Vorkommen von Cyklopie und Arhinencephalie","volume":"56","author":"Klopfstock A","year":"1921","journal-title":"Mschr Geburtsh Gyn\u00e4k"},{"issue":"2","key":"e_1_2_1_12_1","first-page":"294","article-title":"Holoprosencephaly: Birth data, genetic and demographic analysis of 30 families","volume":"11","author":"Roach E","year":"1975","journal-title":"Birth Defects"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320110409","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320110409","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,13]],"date-time":"2023-11-13T01:04:15Z","timestamp":1699837455000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320110409"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1982,4]]},"references-count":11,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1982,4]]}},"alternative-id":["10.1002\/ajmg.1320110409"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320110409","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1982,4]]}}}