{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:07:56Z","timestamp":1761718076541,"version":"build-2065373602"},"reference-count":1,"publisher":"BMJ","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1989,12]]},"abstract":"<jats:p>A male infant, the offspring of a father-daughter mating, is described. He had a lethal condition consisting of brachycephaly, large fontanelles, a flat face, a small nose with thin nares, hypertelorism, small ears with cystic pinnae, camptodactyly, talipes equinovarus, and hypoplastic lungs and kidneys. The brain was very short in the anterior-posterior diameter with simplified broad convolutions (a form of pachygyria).<\/jats:p>","DOI":"10.1136\/jmg.26.12.788","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"788-789","source":"Crossref","is-referenced-by-count":12,"title":["Unknown syndrome: pachygyria, joint contractures, and facial abnormalities."],"prefix":"10.1136","volume":"26","author":[{"given":"R M","family":"Winter","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B N","family":"Harding","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","family":"Hyde","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1989,12,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1002\/ajmg.1320220119","article-title":"Further comments on the lissencephaly syndromes","volume":"22","author":"Dobyns, W.B.; Gilbert, E.F.; Optiz, J.M.","year":"1985","unstructured":"Dobyns WB, Gilbert EF, Optiz JM. Further comments on the lissencephaly syndromes. Am J Med Genet 1985;22:197-211.","journal-title":"Am J Med Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.26.12.788","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T17:56:43Z","timestamp":1759687003000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.26.12.788"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1989,12]]},"references-count":1,"journal-issue":{"issue":"12","published-online":{"date-parts":[[1989,12,1]]},"published-print":{"date-parts":[[1989,12]]}},"alternative-id":["10.1136\/jmg.26.12.788"],"URL":"https:\/\/doi.org\/10.1136\/jmg.26.12.788","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1989,12]]}}}