Arthrogryposis, renal dysfunction, cholestasis syndrome with a novel mutation in two siblings

Abstract

This current case series adds to the spectrum of Arthrogryposis renal dysfunction cholestasis (ARC)-associated variants. Increased awareness and early genetic testing for ARC are suggested in cases with failure to thrive, renal tubular dysfunction, and rickets, even when the degree of cholestasis is mild. Prompt identification and intervention may improve the quality of life.

Keywords: arthrogryposis; cholestasis; genetics; pediatrics.