{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T01:40:50Z","timestamp":1791855650558,"version":"4.3.4"},"reference-count":6,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1990,3]]},"abstract":"<jats:p>We present a male infant with hypertelorism, median pseudo-cleft of the upper lip and cleft palate, lobulated tongue, hypoplastic larynx and epiglottis, mesomelic shortening of limbs with particularly short and broad tibiae, polydactyly of the upper limbs, severely hypoplastic external genitalia with anorchidism, anal atresia, severe congenital heart defect, and renal agenesis. These features show considerable overlap with severe Majewski type short rib-polydactyly syndrome and so expand the known spectrum of anomalies in orofaciodigital syndrome type IV.<\/jats:p>","DOI":"10.1136\/jmg.27.3.200","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"200-202","source":"Crossref","is-referenced-by-count":47,"title":["Orofaciodigital syndrome type IV (Mohr-Majewski syndrome) with severe expression expanding the known spectrum of anomalies."],"prefix":"10.1136","volume":"27","author":[{"given":"P","family":"Meinecke","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H","family":"Hayek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1990,3,1]]},"reference":[{"key":"ref_1","first-page":"431","article-title":"The genetics of hand malformations","volume":"3","author":"Temtamy, S.; McKusick, V.A.","year":"1978","unstructured":"Temtamy S, McKusick VA. The genetics of hand malformations. Birth Defects 1978;XIV(3):431-7.","journal-title":"Birth Defects"},{"key":"ref_2","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"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1136\/jmg.21.3.189","article-title":"Orofaciodigital syndrome with mesomelic limb shortening","volume":"21","author":"Burn, J.; Dezateux, C.; Hall, C.M.; Baraitser, M.","year":"1984","unstructured":"Burn J, Dezateux C, Hall CM, Baraitser M. Orofaciodigital syndrome with mesomelic limb shortening. J Med Genet 1984;21:189-92.","journal-title":"J Med Genet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1002\/ajmg.1320320202","article-title":"Orofaciodigital syndrome type IV: report of a patient","volume":"32","author":"Nevin, N.C.; Thomas, P.S.","year":"1989","unstructured":"Nevin NC, Thomas PS. Orofaciodigital syndrome type IV: report of a patient. AmJ Med Genet 1989;32:151-4.","journal-title":"AmJ Med Genet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1111\/j.1399-0004.1987.tb02817.x","article-title":"Oro-facialdigital syndrome II. Transitional type between the Mohr and the Majewski syndromes: report of two new cases","volume":"31","author":"Silengo, M.C.; Bell, G.L.; Biagioli, M.; Franceschini, P.","year":"1987","unstructured":"Silengo MC, Bell GL, Biagioli M, Franceschini P. Oro-facialdigital syndrome II. Transitional type between the Mohr and the Majewski syndromes: report of two new cases. Clin Genet 1987;31:331-6.","journal-title":"Clin Genet"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1111\/j.1399-0004.1988.tb02886.x","article-title":"X-linked recessive inheritance of an orofaciodigital syndrome with partial expression in females and survival of affected males","volume":"34","author":"Edwards, M.; Mulcahy, D.; TurnerG","year":"1988","unstructured":"Edwards M, Mulcahy D, TurnerG. X-linked recessive inheritance of an orofaciodigital syndrome with partial expression in females and survival of affected males. Clin Genet 1988;34: 325-32.","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.27.3.200","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T04:21:42Z","timestamp":1759724502000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.27.3.200"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1990,3]]},"references-count":6,"journal-issue":{"issue":"3","published-online":{"date-parts":[[1990,3,1]]},"published-print":{"date-parts":[[1990,3]]}},"alternative-id":["10.1136\/jmg.27.3.200"],"URL":"https:\/\/doi.org\/10.1136\/jmg.27.3.200","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1990,3]]}}}