Hardikar W, Smith A L, Keith C G, Chow C W
Department of Gastroenterology, Royal Children's Hospital, Melbourne, Australia.
Am J Med Genet. 1992 Sep 1;44(1):13-7. doi: 10.1002/ajmg.1320440105.
A number of systemic abnormalities associated with cholestasis have been reported in the literature. This paper describes two unrelated patients with cholestasis and an unusual constellation of abnormalities including cleft palate/lip, hydronephrosis/hydroureter, retinal pigmentation, and intestinal septum.