{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T05:10:02Z","timestamp":1760764202208,"version":"build-2065373602"},"reference-count":5,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1981,4]]},"abstract":"<jats:p>A unique connective tissue disorder characterised by the triad of dentinogenesis imperfecta, blue sclerae, and multiple wormian bones has been identified in 20 members of three generations of a large kindred of mixed ancestry in South Africa. The skeletons of affected subjects were moderately osteoporotic but, apart from minimal bowing of the femora and some vertebral flattening in late adulthood, this abnormality produced no untoward sequelae. Bone fragility was present in one young male, while a mother and her daughter had deafness of uncertain relationship with the primary disorder. Dental discolouration and a liability to caries were the only important complications. The condition is best regarded as yet another variety of osteogenesis imperfecta. It is inherited as an autosomal dominant trait with relatively consistent phenotypic expression.<\/jats:p>","DOI":"10.1136\/jmg.18.2.124","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:52:06Z","timestamp":1226328726000},"page":"124-128","source":"Crossref","is-referenced-by-count":20,"title":["Familial dentinogenesis imperfecta, blue sclerae, and wormian bones without fractures: another type of osteogenesis imperfecta?"],"prefix":"10.1136","volume":"18","author":[{"given":"P","family":"Beighton","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1981,4,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"786","DOI":"10.1016\/S0022-3476(59)80146-3","article-title":"Hereditary dentinogenesis imperfecta","volume":"54","author":"Johnson, O.N.; Chaudhry, A.P.; Gorlin, R.J.; Mitchell, D.F.; Bartholdi, W.I.","year":"1959","unstructured":"Johnson ON, Chaudhry AP, Gorlin RJ, Mitchell DF, Bartholdi WI. Hereditary dentinogenesis imperfecta. J Pediatr 1959;54:786-92.","journal-title":"J Pediatr"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"442","DOI":"10.1111\/j.1399-0004.1972.tb01478.x","article-title":"Dentinogenesis imperfecta: severe expression in a prooable heterozygote","volume":"3","author":"Shokeir, M.H.K.","year":"1972","unstructured":"Shokeir MHK. Dentinogenesis imperfecta: severe expression in a prooable heterozygote. Clin Geniet 1972; 3:442-7.","journal-title":"Clin Geniet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1016\/0030-4220(73)90283-1","article-title":"Dentinogenesis imperfecta traceable through five generations of a part American Indian family","volume":"35","author":"Miller, W.A.; Winkler, S.; Rosenberg, J.J.; Mastracola, R.; Fischman, S.L.; Wolfe, R.J.","year":"1973","unstructured":"Miller WA, Winkler S, Rosenberg JJ, Mastracola R, Fischman SL, Wolfe RJ. Dentinogenesis imperfecta traceable through five generations of a part American Indian family. Oral Surg 1973;35:180-6.","journal-title":"Oral Surg"},{"author":"McKusick, V.A.","unstructured":"McKusick VA. Heritable disorders of connective tissue. St Louis: Mosby, 1972:390.","article-title":"Heritable disorders of connective tissue","key":"ref_4"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1136\/jmg.16.2.101","article-title":"Genetic heterogeneity in osteogenesis imperfecta","volume":"16","author":"Sillence, D.O.; A, Senn; DM, Danks","year":"1979","unstructured":"Sillence, DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J AMel Genet 1979;16:101-16.","journal-title":"J AMel Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.18.2.124","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T04:49:33Z","timestamp":1760762973000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.18.2.124"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1981,4]]},"references-count":5,"journal-issue":{"issue":"2","published-online":{"date-parts":[[1981,4,1]]},"published-print":{"date-parts":[[1981,4]]}},"alternative-id":["10.1136\/jmg.18.2.124"],"URL":"https:\/\/doi.org\/10.1136\/jmg.18.2.124","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1981,4]]}}}