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The renal malformation consisted of cystic dysplasia, with abnormally differentiated ducts, deficient nephron differentiation, and glomerular cysts. The hepatic abnormality consisted of enlarged portal areas containing numerous elongated biliary \u201cprofiles,\u201d with a tendency to perilobular fibrosis. Serial liver biopsies in one child with cholestasis from birth showed a progression from bile duct paucity at 11\/2 wk to typical biliary \u201cdysgenesis\u201d at 7 mo. Four of the five children had intrahepatic ductal dilatation, diagnosed ante mortem in the two older children as Caroli disease. The pancreatic abnormality consisted of fibrosis and cysts, with a diminution of parenchymal tissue. The clinical and functional reflection of these abnormalities in the two children surviving the newborn period included renal insufficiency, chronic jaundice, and insulin\u2010dependent diabetes mellitus. Similar renal, hepatic, and pancreatic abnormalities occur in other syndromes, including trisomy 9, Meckel syndrome, Jeune, Saldino\u2010Noonan, and Elejalde types of chondrodysplasia, and glutaric aciduria II. After exclusion of identifiable syndromes, the remaining cases of renal\u2010hepatic\u2010pancreatic dysplasia do not necessarily constitute a homogeneous group.<\/jats:p>","DOI":"10.1002\/ajmg.1320260218","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T02:46:36Z","timestamp":1118544396000},"page":"391-403","source":"Crossref","is-referenced-by-count":59,"title":["Renal\u2010hepatic\u2010pancreatic dysplasia: A syndrome reconsidered"],"prefix":"10.1002","volume":"26","author":[{"given":"Jay","family":"Bernstein","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manju","family":"Chandra","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jim","family":"Creswell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ellen","family":"Kahn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nadia N.","family":"Malouf","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melinda","family":"McVicar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arthur G.","family":"Weinberg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert E.","family":"Wybel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,4]]},"reference":[{"key":"e_1_2_1_2_1","series-title":"DHEW Publication No. (NIH) 79\u20131296","first-page":"331","volume-title":"Neonatal Hepatitis and Biliary Atresia","author":"Bernstein J","year":"1979"},{"key":"e_1_2_1_3_1","first-page":"295","volume-title":"Kidney Disease: Present Status. 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