{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T20:27:58Z","timestamp":1790972878515,"version":"4.1.0"},"reference-count":8,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1986,8]]},"abstract":"<jats:p>A family is described in which the father and his two children had Robinow syndrome, but with no consistent brachymelia or dwarfism. Two further sporadic cases are described, one with rhizomelic brachymelia and dwarfism and the other with generalised shortening of the limbs. An attempt is also made to distinguish between the phenotype of autosomal dominant and recessive cases on the basis of the familial cases in this paper and other reported cases.<\/jats:p>","DOI":"10.1136\/jmg.23.4.350","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:09:16Z","timestamp":1226329756000},"page":"350-354","source":"Crossref","is-referenced-by-count":46,"title":["Robinow syndrome without mesomelic 'brachymelia': a report of five cases."],"prefix":"10.1136","volume":"23","author":[{"given":"M D","family":"Bain","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R M","family":"Winter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Burn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1986,8,1]]},"reference":[{"key":"ref_1","first-page":"645","article-title":"A newly recognised dwarfing syndrome","volume":"117","author":"Robinow, M.; Silverman, F.N.; Smith, H.D.","year":"1969","unstructured":"Robinow M, Silverman FN, Smith HD. A newly recognised dwarfing syndrome. Am J Dis Child 1969;117:645-51.","journal-title":"Am J Dis Child"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"594","DOI":"10.1001\/archpedi.1982.03970430026007","article-title":"Male to male transmissions of Robinow's syndrome","volume":"136","author":"Shprintzen, R.; Goldberg, R.; Saenger, P.; Sidoti, E.","year":"1982","unstructured":"Shprintzen R, Goldberg R, Saenger P, Sidoti E. Male to male transmissions of Robinow's syndrome. Am J Dis Child 1982;136:594-7.","journal-title":"Am J Dis Child"},{"key":"ref_3","first-page":"447","article-title":"Syndrome de Robinow a transmission dominante","volume":"39","author":"Vallee, L.; Van Nerom, P.Y.; Ferraz, F.G.","year":"1982","unstructured":"Vallee L, Van Nerom PY, Ferraz FG, et al. Syndrome de Robinow a transmission dominante. Arch Fr Pediatr 1982;39:447-8.","journal-title":"Arch Fr Pediatr"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1136\/jmg.15.2.123","article-title":"Recessively inherited costovertebral segmentation defect with mesomelia and peculiar facies (Covesdem syndrome). A new genetic entity?","volume":"15","author":"Wadia, R.S.; Shirole, D.B.; Dikshit, M.S.","year":"1978","unstructured":"Wadia RS, Shirole DB, Dikshit MS. Recessively inherited costovertebral segmentation defect with mesomelia and peculiar facies (Covesdem syndrome). A new genetic entity? J Med Genet 1978;15:123-7.","journal-title":"J Med Genet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1136\/jmg.16.2.162","article-title":"Covesdem syndrome","volume":"16","author":"Wadia, R.S.","year":"1979","unstructured":"Wadia RS. Covesdem syndrome. J Med Genet 1979;16:162.","journal-title":"J Med Genet"},{"key":"ref_6","first-page":"202","article-title":"Mesomelic dwarfism with hemivertebrae and small genitalia (the Robinow syndrome)","volume":"126","author":"Wadlington, W.; Tucker, V.","year":"1973","unstructured":"Wadlington W, Tucker V. Mesomelic dwarfism with hemivertebrae and small genitalia (the Robinow syndrome). Am J Dis Child 1973;126:202-5.","journal-title":"Am J Dis Child"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1148\/radiology.143.2.7071345","article-title":"Standards for limb bone length ratios in children","volume":"143","author":"Robinow, M.; Chumlea, W.","year":"1982","unstructured":"Robinow M, Chumlea W. Standards for limb bone length ratios in children. Radiology 1982;143:433-6.","journal-title":"Radiology"},{"key":"ref_8","first-page":"946","article-title":"Robinow syndrome","volume-title":"defects compendium","author":"Robinow, M.","year":"1979","unstructured":"Robinow M. Robinow syndrome. In: Bergsma D, ed. Birth defects compendium. 2nd ed. London: MacMillan, 1979:946-7.","edition":"2nd ed"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.23.4.350","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T05:58:08Z","timestamp":1760767088000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.23.4.350"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1986,8]]},"references-count":8,"journal-issue":{"issue":"4","published-online":{"date-parts":[[1986,8,1]]},"published-print":{"date-parts":[[1986,8]]}},"alternative-id":["10.1136\/jmg.23.4.350"],"URL":"https:\/\/doi.org\/10.1136\/jmg.23.4.350","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1986,8]]}}}