{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T04:41:32Z","timestamp":1760762492872,"version":"build-2065373602"},"reference-count":26,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1996,5]]},"abstract":"<jats:p>We report two brothers with a cystic malformation of the kidneys, liver, and pancreas. In both cases the malformation was fatal and the children died shortly after birth. The pathological findings, consisting of multicystic dysplastic kidneys, dilated and dysgenetic bile ducts, dilated pancreatic ducts, and polysplenia, correspond to those reported by Ivemark as renal-hepatic-pancreatic dysplasia. Many polymalformation syndromes include cystic affectation of these three organs, so this syndrome could be an isolated entity or a final common pathway of response of these organs to a variety of developmental disturbances, which could also include splenic abnormalities. We propose an autosomal recessive pattern of inheritance for renal-hepatic-pancreatic dysplasia.<\/jats:p>","DOI":"10.1136\/jmg.33.5.409","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"409-412","source":"Crossref","is-referenced-by-count":34,"title":["Renal-hepatic-pancreatic dysplasia: an autosomal recessive malformation."],"prefix":"10.1136","volume":"33","author":[{"given":"R","family":"Torra","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L","family":"Al\u00f3s","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","family":"Ramos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"X","family":"Estivill","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1996,5,1]]},"reference":[{"key":"ref_1","first-page":"1","article-title":"Familial dysplasia of kidneys, liver and pancreas. 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Chicago: Year Book Medical Publishers, 1972."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1038\/ng0794-429","article-title":"Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p2l-cen","volume":"7","author":"Zerres, K.; Muecher, G.; Bachner, L.","year":"1994","unstructured":"Zerres K, Muecher G, Bachner L, et al. Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p2l-cen. Nature Genet 1994; 7:429-32.","journal-title":"Nature Genet"},{"key":"ref_8","first-page":"1101","article-title":"The severe perinatal form of autosomal recessive polycystic kidney disease maps to chromosome 6p21.1-p 12: implications for genetic counseling","volume":"56","author":"Guay-Woodford, L.M.; Muecher, G.; Hopkins, S.D.","year":"1995","unstructured":"Guay-Woodford LM, Muecher G, Hopkins SD, et al. The severe perinatal form of autosomal recessive polycystic kidney disease maps to chromosome 6p21.1-p 12: implications for genetic counseling. Am J7 Hum Genet 1995; 56:1101-7.","journal-title":"Am J7 Hum Genet"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"542","DOI":"10.1038\/317542a0","article-title":"A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16","volume":"317","author":"Reeders, S.T.; Breuning, M.H.; Davies, K.E.","year":"1985","unstructured":"Reeders ST, Breuning MH, Davies KE, et al. A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16. Nature 1985;317:542-4.","journal-title":"Nature"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1016\/S0888-7543(11)80001-7","article-title":"Autosomal dominant polycystic kidney disease: localization of the second gene to chromosome 4ql3-q23","volume":"18","author":"Kimberling, W.J.; Kumar, S.; Gabow, P.; Kenyon, J.B.; Conolly, C.J.; Somlo, S.","year":"1993","unstructured":"Kimberling WJ, Kumar S, Gabow P, Kenyon JB, Conolly CJ, Somlo S. Autosomal dominant polycystic kidney disease: localization of the second gene to chromosome 4ql3-q23. Genomics 1993;18:467-72.","journal-title":"Genomics"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1038\/ng1293-359","article-title":"Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease","volume":"5","author":"Peters, D.J.M.; Spruit, L.; Saris, J.J.","year":"1993","unstructured":"Peters DJM, Spruit L, Saris JJ, et al. 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Hum Molec Genet 1995;4: 1331-5.","journal-title":"Hum Molec Genet"},{"key":"ref_20","first-page":"332","article-title":"Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease a contiguous syndrome","volume":"8","author":"Brook-Carter, P.; Peral, B.; Ward, C.J.","year":"1994","unstructured":"Brook-Carter P, Peral B, Ward CJ, et al. Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease a contiguous syndrome. Nature Genet 1994;8:332.","journal-title":"Nature Genet"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1542\/peds.48.2.237","article-title":"Genetics of the Meckel syndrome (dysencephalia splanchnocystica)","volume":"48","author":"Hsia, Y.E.; Bratu, M.; Herbordt, A.","year":"1971","unstructured":"Hsia YE, Bratu M, Herbordt A. Genetics of the Meckel syndrome (dysencephalia splanchnocystica). 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Arch Fr Pediatr 1971;28:425-34.","journal-title":"Arch Fr Pediatr"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"337","DOI":"10.3109\/15513818909037738","article-title":"The Goldston syndrome: report of a case","volume":"9","author":"Gloeb, D.J.; Valdes-Dapena, M.V.; Salman, F.; O'Sullivan, M.J.; Quetel, T.A.","year":"1989","unstructured":"Gloeb DJ, Valdes-Dapena MV, Salman F, O'Sullivan MJ, Quetel TA. The Goldston syndrome: report of a case. Pediatr Pathol 1989;9:337-43.","journal-title":"Pediatr Pathol"},{"key":"ref_25","first-page":"257","article-title":"Severe thoracic dystrophy with striking micromelia, abnormal osseous development, including the spine, and multiple visceral abnormalities","volume":"114","author":"Saldino, R.M.; Noonan, C.D.","year":"1972","unstructured":"Saldino RM, Noonan CD. Severe thoracic dystrophy with striking micromelia, abnormal osseous development, including the spine, and multiple visceral abnormalities. AJ7R 1972;114:257-63."},{"key":"ref_26","first-page":"459","article-title":"Cystic dysplastic kidneys associated with Dandy-Walker malformation and congenital hepatic fibrosis. An Y Clin Pathol","volume":"84","author":"Kudo, M.; Tamura, K.; Fuse, Y.","year":"1985","unstructured":"Kudo M, Tamura K, Fuse Y. Cystic dysplastic kidneys associated with Dandy-Walker malformation and congenital hepatic fibrosis. 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