{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T07:40:01Z","timestamp":1760773201576,"version":"build-2065373602"},"reference-count":4,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1993,1]]},"abstract":"<jats:p>A 4 year 9 month old boy and his 3 year 5 month old sister presented with delayed speech development, facial asymmetry, strabismus, and transverse ear lobe creases. The same features were found in their mother, but the father had no such anomalies. To our knowledge this familial association has not been described before and may represent an autosomal dominant syndrome.<\/jats:p>","DOI":"10.1136\/jmg.30.1.76","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"76-77","source":"Crossref","is-referenced-by-count":5,"title":["Delayed speech development, facial asymmetry, strabismus, and transverse ear lobe creases: a new syndrome?"],"prefix":"10.1136","volume":"30","author":[{"given":"K","family":"M\u00e9hes","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1993,1,1]]},"reference":[{"key":"ref_1","first-page":"1","article-title":"Handbook of normal physical measurements","author":"Hall, J.G.; Froster-Iskenius, U.G.; Allanson, J.E.","year":"1989","unstructured":"Hall JG, Froster-Iskenius UG, Allanson JE. Handbook of normal physical measurements. Oxford: Oxford University Press, 1989:1-504."},{"key":"ref_2","first-page":"1","article-title":"Informative morphogenetic variants in the newborn infant","author":"Mehes, K.","year":"1988","unstructured":"Mehes K. Informative morphogenetic variants in the newborn infant. Budapest: Akademiai Kiad6, 1988:1-229."},{"key":"ref_3","article-title":"Mendelian inheritance in man: catalogs of autosomal dominant, autosomal recessive, and X-linked phenotypes","author":"McKusick, V.A.","year":"1990","unstructured":"McKusick VA. Mendelian inheritance in man: catalogs of autosomal dominant, autosomal recessive, and X-linked phenotypes. Baltimore: Johns Hopkins University Press, 1990."},{"issue":"6","key":"ref_4","first-page":"303","article-title":"Peculiar facies with short philtrum, duck-bill lips and low-set ears - a new syndrome?","volume":"14","author":"Char, F.","year":"1978","unstructured":"Char F. Peculiar facies with short philtrum, duck-bill lips and low-set ears - a new syndrome? Birth Defects 1978;14(6B):303-5.","journal-title":"Birth Defects"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.30.1.76","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T07:16:57Z","timestamp":1760771817000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.30.1.76"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,1]]},"references-count":4,"journal-issue":{"issue":"1","published-online":{"date-parts":[[1993,1,1]]},"published-print":{"date-parts":[[1993,1]]}},"alternative-id":["10.1136\/jmg.30.1.76"],"URL":"https:\/\/doi.org\/10.1136\/jmg.30.1.76","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1993,1]]}}}