{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T22:10:17Z","timestamp":1760739017177,"version":"build-2065373602"},"reference-count":3,"publisher":"BMJ","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1987,11]]},"abstract":"<jats:p>We present a stillborn male infant with premaxillary agenesis, bilateral microphthalmos, alobar holoprosencephaly, hydrocephalus, ventricular and atrial septal defects, small penis, bilateral cryptorchidism, and bilateral upper limb postaxial polydactyly.<\/jats:p>","DOI":"10.1136\/jmg.24.11.714","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:09:16Z","timestamp":1226329756000},"page":"714-715","source":"Crossref","is-referenced-by-count":28,"title":["Unknown syndrome: holoprosencephaly, congenital heart defects, and polydactyly."],"prefix":"10.1136","volume":"24","author":[{"given":"I D","family":"Young","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D J","family":"Madders","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1987,11,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1136\/jmg.21.2.121","article-title":"A computerised database for the diagnosis of rarc dysmorphic syndromes","volume":"21","author":"M, Winter R.M.Baraitser; JM, Douglas","year":"1984","unstructured":"Winter RM. Baraitser M, Douglas JM. A computerised database for the diagnosis of rarc dysmorphic syndromes. J Med Genet 1984;21:121-3.","journal-title":"J Med Genet"},{"key":"ref_2","first-page":"67","article-title":"Spectrum of anomalies in the Meckel syndrome","volume":"9","author":"Fraser, F.C.; Lytwyn, A.","year":"1981","unstructured":"Fraser FC, Lytwyn A. Spectrum of anomalies in the Meckel syndrome. Am J Med Genet 1981;9:67-73.","journal-title":"Am J Med Genet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1111\/j.1399-0004.1981.tb00718.x","article-title":"The hydrolethalus syndrome: delineation of a 'new' lethal malformation syndromc based on 28 patients","volume":"19","author":"Salonen, R.; Herva, R.; Norio, R.","year":"1981","unstructured":"Salonen R, Herva R, Norio R. The hydrolethalus syndrome: delineation of a 'new' lethal malformation syndromc based on 28 patients. Clin Genet 1981;19:321-30.","journal-title":"Clin Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.24.11.714","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T21:28:02Z","timestamp":1760736482000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.24.11.714"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1987,11]]},"references-count":3,"journal-issue":{"issue":"11","published-online":{"date-parts":[[1987,11,1]]},"published-print":{"date-parts":[[1987,11]]}},"alternative-id":["10.1136\/jmg.24.11.714"],"URL":"https:\/\/doi.org\/10.1136\/jmg.24.11.714","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1987,11]]}}}