Lutz-Richner and Landolt syndrome

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Synonyms and keywords: Cholestatic jaundice - renal tubular insufficiency; Biliary tract malformation - renal failure.

Overview

Lutz-Richner and Landolt syndrome is characterised by renal tubular insufficiency, cholestatic jaundice, predisposition to infection, failure to thrive and multiple congenital anomalies. It has been described in six male infants from three families, two of which were consanguineous. Transmission is either autosomal or X-linked recessive.


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