Polycystic kidney disease, biliary dysgenesis in a patient with Larsen's syndrome


Kurtoglu S. , Dundar M. , HALLAÇ I. K. , Uzum K. , OKUMUŞ Y. , Oktem T.

CLINICAL GENETICS, vol.51, no.6, pp.408-411, 1997 (Journal Indexed in SCI) identifier identifier

  • Publication Type: Article / Article
  • Volume: 51 Issue: 6
  • Publication Date: 1997
  • Title of Journal : CLINICAL GENETICS
  • Page Numbers: pp.408-411

Abstract

Larsen's syndrome is characterised by multiple joint dislocations, flat face and talipes equinovarus. There is an autosomal dominant form and also a more severe autosomal recessive form. Several types of polycystic kidney disease have been reported in children. In this report we present an infant with a severe form of Larsen's syndrome (thought to be lethal Larsen-like), infantile-type polycystic kidney disease, biliary dysgenesis and osteosclerosis.