{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T14:03:29Z","timestamp":1761487409318},"reference-count":7,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,2]],"date-time":"2005-06-02T00:00:00Z","timestamp":1117670400000},"content-version":"vor","delay-in-days":9649,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1979,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a postnatally dead, postterm male infant with aprosencephaly and the oculofacial manifestations usually seen in the most severe form of alobar holoprosencephaly \u2013 namely cyclopia and absence of derivatives of the frontonasal process; in addition the infant had the radius aplasia field defect bilaterally, a high VSD, mobile cecum, and penile hypospadias with cryptorchidism. The same syndrome was reported recently by Garcia and Duncan [2]; however, in that case the brain defect was designated \u201catelencephaly.\u201d Since atelencephaly is a less severe form of aprosencephaly we chose to designate the condition in these two patients as \u201cthe aprosencephaly (XK) syndrome.\u201d Atelencephaly and aprosencephaly may occur also as a single and sporadic malformation. The cause of the aprosencephaly (XK) syndrome is unknown.<\/jats:p>","DOI":"10.1002\/ajmg.1320030310","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T00:41:04Z","timestamp":1118536864000},"page":"303-309","source":"Crossref","is-referenced-by-count":40,"title":["Aprosencephaly\u2010atelencephaly and the aprosencephaly (XK) syndrome"],"prefix":"10.1002","volume":"3","author":[{"given":"Iosif W.","family":"Lurie","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael K.","family":"Nedzved","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gennady I.","family":"Lazjuk","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irena A.","family":"Kirillova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eugeny D.","family":"Cherstvoy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Optiz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,2]]},"reference":[{"key":"e_1_2_1_2_2","first-page":"3","article-title":"Genetic syndromes of multiple congenital malformations","volume":"3","author":"Lazjuk GI","year":"1977","journal-title":"Arkh Patol (Moscow) 39"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.1977.tb07973.x"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.1977.tb08000.x"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF02962275"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF02864295"},{"key":"e_1_2_1_7_2","series-title":"Birth Defects Original Article Series","first-page":"78","volume-title":"The Nervous System","author":"DeMyer W","year":"1971"},{"key":"e_1_2_1_8_2","first-page":"121","volume-title":"Lieferung IX of Part III: Die Einzelmissbildungen. Die Morphologie der Missbildungen des Menschen und der Tiere","author":"Gr\u00fcberg C","year":"1913"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320030310","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320030310","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,12]],"date-time":"2023-11-12T23:36:48Z","timestamp":1699832208000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320030310"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1979,1]]},"references-count":7,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1979,1]]}},"alternative-id":["10.1002\/ajmg.1320030310"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320030310","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1979,1]]}}}