{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,5]],"date-time":"2026-06-05T03:57:30Z","timestamp":1780631850142,"version":"3.54.1"},"reference-count":10,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1990,4]]},"abstract":"<jats:p>We describe two children with multiple abnormalities, neither of whom fits neatly into a classical diagnostic category, but who show overlapping features of Ellis-van Creveld syndrome, Jeune syndrome, and renal-hepatic-pancreatic dysplasia. It seems possible that these three entities form part of a disease spectrum rather than being distinct conditions.<\/jats:p>","DOI":"10.1136\/jmg.27.4.252","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"252-255","source":"Crossref","is-referenced-by-count":63,"title":["Ellis-van creveld syndrome, Jeune syndrome, and renal-hepatic-pancreatic dysplasia: separate entities or disease spectrum?"],"prefix":"10.1136","volume":"27","author":[{"given":"L A","family":"Brueton","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M J","family":"Dillon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R M","family":"Winter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1990,4,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1136\/adc.15.82.65","article-title":"A syndrome characterised by ectodermal dysplasia, polydactyly, chondrodysplasia and congenital morbus cordis; report of three cases","volume":"15","author":"Ellis, R.W.; van Creveld, S.","year":"1940","unstructured":"Ellis RW, van Creveld S. A syndrome characterised by ectodermal dysplasia, polydactyly, chondrodysplasia and congenital morbus cordis; report of three cases. Arch Dis Child 1940;15: 65-84.","journal-title":"Arch Dis Child"},{"key":"ref_2","first-page":"306","article-title":"Dwarfism in the Amish: the Ellis-van Creveld syndrome","volume":"115","author":"McKusick, V.A.; Egeland, J.A.; Eldridge, R.; Krusen, D.E.","year":"1964","unstructured":"McKusick VA, Egeland JA, Eldridge R, Krusen DE. Dwarfism in the Amish: the Ellis-van Creveld syndrome. Bull John Hopkins Hosp 1964;115:306-36.","journal-title":"Bull John Hopkins Hosp"},{"key":"ref_3","first-page":"41","article-title":"Bone dysplasia. An adasofconstitutionaldisordersofskeletal development","author":"Spranger, J.W.; Langer, L.O.; Wiedemann, H.R.","year":"1974","unstructured":"Spranger JW, Langer LO, Wiedemann HR. Bone dysplasia. An adasofconstitutionaldisordersofskeletal development. Philadelphia: Saunders, 1974:41-50."},{"key":"ref_4","first-page":"886","article-title":"Dystrophie thoracique asphyxiante de caractere familial","volume":"12","author":"Jeune, M.; Beraud, C.; Carron, R.","year":"1955","unstructured":"Jeune M, Beraud C, Carron R. Dystrophie thoracique asphyxiante de caractere familial. Arch Fr Pediatr 1955;12:886-91.","journal-title":"Arch Fr Pediatr"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1136\/jmg.22.2.112","article-title":"Necropsy findings in neonatal asphyxiating thoracic dystrophy","volume":"22","author":"Turkel, S.B.; Diehl, E.J.; Richmond, J.A.","year":"1985","unstructured":"Turkel SB, Diehl EJ, Richmond JA. Necropsy findings in neonatal asphyxiating thoracic dystrophy. J Med Genet 1985;22: 112-8.","journal-title":"J Med Genet"},{"key":"ref_6","first-page":"35","article-title":"The renal lesion in syndromes of multiple congenital malformations. Cerebrohepatorenal syndrome, Jeune asphyxiating thoracic dystrophy, tuberous sclerosis, Meckel syndrome","volume":"4","author":"Bernstein, J.; Brough, A.J.; McAdams, A.J.","year":"1974","unstructured":"Bernstein J, Brough AJ, McAdams AJ. The renal lesion in syndromes of multiple congenital malformations. Cerebrohepatorenal syndrome, Jeune asphyxiating thoracic dystrophy, tuberous sclerosis, Meckel syndrome. Birth Defects 1974;X(4): 35-43.","journal-title":"Birth Defects"},{"key":"ref_7","first-page":"1","article-title":"Familial dysplasia of kidneys, liver and pancreas. A probably genetically determined syndrome","volume":"48","author":"Ivemark, B.I.; Oldefelt, V.; Zetterstrom, R.","year":"1959","unstructured":"Ivemark BI, Oldefelt V, Zetterstrom R. Familial dysplasia of kidneys, liver and pancreas. A probably genetically determined syndrome. Acta Paediatr Scand 1959;48: 1-11.","journal-title":"Acta Paediatr Scand"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1002\/ajmg.1320260218","article-title":"Renal-hepaticpancreatic dysplasia: a syndrome reconsidered","volume":"26","author":"Bernstein, J.; Chandra, M.; Creswell, J.","year":"1987","unstructured":"Bernstein J, Chandra M, Creswell J, et al. Renal-hepaticpancreatic dysplasia: a syndrome reconsidered. AmJ Med Genet 1987;26:391-403.","journal-title":"AmJ Med Genet"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1111\/j.1399-0004.1978.tb02099.x","article-title":"Renal dysplasia and asplenia in two sibs","volume":"14","author":"Md'A, Crawfurd","year":"1978","unstructured":"Crawfurd Md'A. Renal dysplasia and asplenia in two sibs. Clin Genet 1978;14:338-44.","journal-title":"Clin Genet"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1002\/ajmg.1320210126","article-title":"Editorial comment on the paper by de la Monte and Hitchins on familial polyasplenia","volume":"21","author":"Opitz, J.M.","year":"1985","unstructured":"Opitz JM. Editorial comment on the paper by de la Monte and Hitchins on familial polyasplenia. Am J Med Genet 1985;21: 175-6.","journal-title":"Am J Med Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.27.4.252","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T18:31:46Z","timestamp":1759689106000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.27.4.252"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1990,4]]},"references-count":10,"journal-issue":{"issue":"4","published-online":{"date-parts":[[1990,4,1]]},"published-print":{"date-parts":[[1990,4]]}},"alternative-id":["10.1136\/jmg.27.4.252"],"URL":"https:\/\/doi.org\/10.1136\/jmg.27.4.252","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1990,4]]}}}