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Polycystic kidney disease, biliary dysgenesis in a patient with Larsen's syndrome
Author(s) -
Kurtoglu Selim,
Dundar Munis,
Hallaç I. Kuttulus.,
Üzüm Kazim,
Okumus Yüksel,
Öktem Turhan
Publication year - 1997
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1997.tb02500.x
Subject(s) - medicine , autosomal dominant polycystic kidney disease , polycystic kidney disease , dysgenesis , kidney , endocrinology , pediatrics , anatomy
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.