{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,30]],"date-time":"2026-03-30T14:20:33Z","timestamp":1774880433457,"version":"3.50.1"},"reference-count":4,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1991,2]]},"abstract":"<jats:p>We report two brothers of Chinese origin who have an apparently unique syndrome of cleft lip\/palate, profound sensorineural deafness, and a sacral lipoma. Additional findings which were not common to both were aberrant digital appendages on the heel and thigh of one boy and an anterior sacral meningocele and dislocated hip in the other. Intelligence is normal in both. Both boys suffer from functional constipation but biopsy studies showed no evidence of Hirschsprung's disease. The parents, who are normal, are not related. Inheritance is probably autosomal or X linked recessive. A possible link with the disorganisation mouse mutant is discussed.<\/jats:p>","DOI":"10.1136\/jmg.28.2.135","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"135-137","source":"Crossref","is-referenced-by-count":21,"title":["Cleft lip and palate, sensorineural deafness, and sacral lipoma in two brothers: a possible example of the disorganisation mutant."],"prefix":"10.1136","volume":"28","author":[{"given":"R B","family":"Lowry","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S L","family":"Yong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1991,2,1]]},"reference":[{"key":"ref_1","first-page":"306","article-title":"Syndromes with cleft lip and cleft palate","volume":"15","author":"Cohen, M.M.","year":"1978","unstructured":"Cohen MM. Syndromes with cleft lip and cleft palate. CleftPalate J 1978;15:306-28.","journal-title":"CleftPalate J"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1136\/jmg.26.7.417","article-title":"A possible human homologue for the mouse mutant disorganisation","volume":"26","author":"Winter, R.M.; Donnai, D.","year":"1989","unstructured":"Winter RM, Donnai D. A possible human homologue for the mouse mutant disorganisation. J Med Genet 1989;26:417-20.","journal-title":"J Med Genet"},{"key":"ref_3","first-page":"212","article-title":"Developmental anomalies in mice resulting from action of the gene Disorganization, a semidominant lethal","volume":"23","author":"Hummel, K.P.","year":"1959","unstructured":"Hummel KP. Developmental anomalies in mice resulting from action of the gene Disorganization, a semidominant lethal. Pediatrics 1959;23:212-21.","journal-title":"Pediatrics"},{"key":"ref_4","article-title":"Genetic variants and strains of the laboratory mouse","author":"Lyon, M.F.","unstructured":"Lyon MF, Searle AG, eds. Genetic variants and strains of the laboratory mouse. 2nd ed. Oxford: Oxford University Press, 1989:92.","edition":"2nd ed"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.28.2.135","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T20:38:43Z","timestamp":1760733523000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.28.2.135"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1991,2]]},"references-count":4,"journal-issue":{"issue":"2","published-online":{"date-parts":[[1991,2,1]]},"published-print":{"date-parts":[[1991,2]]}},"alternative-id":["10.1136\/jmg.28.2.135"],"URL":"https:\/\/doi.org\/10.1136\/jmg.28.2.135","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1991,2]]}}}