Renal-hepatic-pancreatic dysplasia: an autosomal recessive malformation.

AUTOR(ES)

Torra, R

RESUMO

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.

Documentos Relacionados

• Ellis-van creveld syndrome, Jeune syndrome, and renal-hepatic-pancreatic dysplasia: separate entities or disease spectrum?
• Wilms' tumour and renal dysplasia: an hypothesis
• Autosomal dominant thoracolaryngopelvic dysplasia: Barnes syndrome.
• Frontometaphyseal dysplasia: autosomal dominant or X-linked?
• Campomelic dysplasia: evidence of autosomal dominant inheritance.