Multisystem obstruction with cholestasis, pigmentary retinopathy, and cleft palate: a new syndrome?
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.
Hardikar
W
W
Department of Gastroenterology, Royal Children's Hospital, Melbourne, Australia.
Smith
A L
AL
Keith
C G
CG
Chow
C W
CW
D000015:Abnormalities, Multiple / Q000235:genetics*; D002779:Cholestasis / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D006801:Humans; D006869:Hydronephrosis / Q000150:complications / Q000235:genetics; D007231:Infant, Newborn; D007421:Intestine, Small / Q000002:abnormalities; D012174:Retinitis Pigmentosa / Q000235:genetics*; D013577:Syndrome