{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T17:53:14Z","timestamp":1760982794665,"version":"build-2065373602"},"reference-count":3,"publisher":"BMJ","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1983,12]]},"abstract":"<jats:p>Three sibs, the proband and two monozygotic twins, have a condition including mental retardation, postnatal somatic retardation, preaxial polydactyly of the feet, bifid third metacarpal, median cleft lip, fatty hamartomas on the dorsum of the tongue, conductive hearing loss, and unilateral or bilateral renal agenesis. This probably autosomal recessive syndrome could be a further example of the condition described by V\u00e1radi et al or a variant of the Mohr syndrome.<\/jats:p>","DOI":"10.1136\/jmg.20.6.433","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:52:06Z","timestamp":1226328726000},"page":"433-435","source":"Crossref","is-referenced-by-count":24,"title":["Syndrome of polydactyly, cleft lip, lingual hamartomas, renal hypoplasia, hearing loss, and psychomotor retardation: variant of the Mohr syndrome or a new syndrome?"],"prefix":"10.1136","volume":"20","author":[{"given":"J F","family":"Mattei","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"Aym\u00e9","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1983,12,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1136\/jmg.17.2.119","article-title":"Syndrome of polydactyly, cleft lip\/palate or lingual Jump, and psychomotor retardation in endogamic gypsies","volume":"17","author":"Varadi, V.; Szab6, L.; Papp, Z.","year":"1980","unstructured":"Varadi V, Szab6 L, Papp Z. Syndrome of polydactyly, cleft lip\/palate or lingual Jump, and psychomotor retardation in endogamic gypsies. J Med Genet 1980;17: 119-22.","journal-title":"J Med Genet"},{"key":"ref_2","first-page":"568","article-title":"Syndromes of the head and neck","author":"Gorlin, R.J.; Pindborg, J.J.; Cohen, M.M.","year":"1976","unstructured":"Gorlin RJ, Pindborg JJ, Cohen MM. Syndromes of the head and neck. 2nd ed. New York: McGraw Hill, 1976: 568-70.","edition":"2nd ed"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1136\/jmg.20.1.65","article-title":"A female infant with features of Mohr and Majewski syndromes: variable expression, a genetic compound, or a distinct entity?","volume":"20","author":"Baraitser, M.; Burn, J.; Fixsen, J.","year":"1983","unstructured":"Baraitser M, Burn J, Fixsen J. A female infant with features of Mohr and Majewski syndromes: variable expression, a genetic compound, or a distinct entity? J Med Genet 1983;20:65-7.","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.20.6.433","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T08:03:13Z","timestamp":1760774593000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.20.6.433"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1983,12]]},"references-count":3,"journal-issue":{"issue":"6","published-online":{"date-parts":[[1983,12,1]]},"published-print":{"date-parts":[[1983,12]]}},"alternative-id":["10.1136\/jmg.20.6.433"],"URL":"https:\/\/doi.org\/10.1136\/jmg.20.6.433","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1983,12]]}}}