Biliary malformation renal tubular insufficiency

Overview

Biliary malformation with renal tubular insufficiency. Familial. Inheritable malformation syndrome with hypoplasia of the external and internal bile ducts, proximal tubulusinsufficiency of the Fanconi’s syndrome type, skeletal malformations and muscular hypotonia. Neonatal jaundice. Failure to thrive. Repeated infections. Occasionally micrognathia, low-set ears, highly arched palate, barrel chest, club feet, hypotonia. Death occurs within few months.