title: Multisystem obstruction with cholestasis, pigmentary retinopathy, and cleft palate: a new syndrome?
abstract: 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.
authors.affiliation: Department of Gastroenterology, Royal Children's Hospital, Melbourne, Australia.
authors.forename: W
authors.initials: W
authors.lastname: Hardikar
authors.forename: A L
authors.initials: AL
authors.lastname: Smith
authors.forename: C G
authors.initials: CG
authors.lastname: Keith
authors.forename: C W
authors.initials: CW
authors.lastname: Chow
mesh_terms: 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