{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T07:40:03Z","timestamp":1760773203010,"version":"build-2065373602"},"reference-count":4,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1993,3]]},"abstract":"<jats:p>In 1987 Young and Simpson reported a child with hypothyroidism, congenital heart disease, severe mental retardation, and striking facial dysmorphism. Two subsequent reports have described patients sharing some of the features of their case, although in both there were enough discordant features to make it uncertain that the same entity was being described. Here we present a female infant with virtually identical features to Young and Simpson's original case. Her Caucasian parents are first cousins, raising the possibility of autosomal recessive inheritance of this new syndrome.<\/jats:p>","DOI":"10.1136\/jmg.30.3.255","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"255-256","source":"Crossref","is-referenced-by-count":15,"title":["Parental consanguinity in the blepharophimosis, heart defect, hypothyroidism, mental retardation syndrome (Young-Simpson syndrome)."],"prefix":"10.1136","volume":"30","author":[{"given":"D T","family":"Bonthron","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K M","family":"Barlow","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A M","family":"Burt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D G","family":"Barr","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1993,3,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"715","DOI":"10.1136\/jmg.24.11.715","article-title":"Unknown syndrome: abnormal facies, congenital heart defects, hypothyroidism, and severe retardation","volume":"24","author":"Young, I.D.; Simpson, K.","year":"1987","unstructured":"Young ID, Simpson K. Unknown syndrome: abnormal facies, congenital heart defects, hypothyroidism, and severe retardation. J Med Genet 1987;24:715-6.","journal-title":"J Med Genet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"498","DOI":"10.1136\/jmg.25.7.498","article-title":"Unknown syndrome: abnormal facies, hypothyroidism, and severe retardation: a second patient","volume":"25","author":"Fryns, J.P.; Moerman, P.","year":"1988","unstructured":"Fryns JP, Moerman P. Unknown syndrome: abnormal facies, hypothyroidism, and severe retardation: a second patient. J Med Genet 1988;25:498-9.","journal-title":"J Med Genet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"665","DOI":"10.1136\/jmg.26.10.665","article-title":"Unknown syndrome in sibs: microcephaly, seizures, mental retardation, congenital heart disease, and skeletal abnormalities","volume":"26","author":"Holmes, G.E.; Schimke, R.N.","year":"1989","unstructured":"Holmes GE, Schimke RN. Unknown syndrome in sibs: microcephaly, seizures, mental retardation, congenital heart disease, and skeletal abnormalities. J Med Genet 1989;26:665-6.","journal-title":"J Med Genet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"785","DOI":"10.1136\/jmg.26.12.785","article-title":"Unknown syndrome: abnormal facies, hypothyroidism, postaxial polydactyly, and severe retardation: a third patient","volume":"26","author":"Cavalcanti, D.P.","year":"1989","unstructured":"Cavalcanti DP. Unknown syndrome: abnormal facies, hypothyroidism, postaxial polydactyly, and severe retardation: a third patient. J Med Genet 1989;26:785-9.","journal-title":"J Med Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.30.3.255","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T07:12:23Z","timestamp":1760771543000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.30.3.255"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,3]]},"references-count":4,"journal-issue":{"issue":"3","published-online":{"date-parts":[[1993,3,1]]},"published-print":{"date-parts":[[1993,3]]}},"alternative-id":["10.1136\/jmg.30.3.255"],"URL":"https:\/\/doi.org\/10.1136\/jmg.30.3.255","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1993,3]]}}}