Renal-hepatic-pancreatic dysplasia: An autosomal recessive malformation

R. Torra, L. Alós, J. Ramos, X. Estivill

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Abstract

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.

Original languageEnglish
Pages (from-to)409-412
Number of pages4
JournalJournal of medical genetics
Volume33
Issue number5
Publication statusPublished - 28 May 1996

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Keywords

  • Autosomal
  • Dysplastic kidneys
  • Recessive disorder
  • Renal-hepatic-pancreatic-dysplasia

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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