title: Hardikar syndrome: long term outcome of a rare genetic disorder.
abstract: Hardikar syndrome is a rare disorder of unknown etiology. Features of the syndrome are manifold with a predominance of liver and renal involvement. The syndrome is clearly distinct from other previously described syndromes such as Alagille syndrome, congenital hepatic fibrosis, Caroli disease, and Kabuki make-up syndrome. To date, only four cases of Hardikar syndrome have been published worldwide. We report here on the long term outcome of these patients.
authors.affiliation: Department of Gastroenterology and Clinical Nutrition, Royal Children's Hospital, Parkville, Victoria, Australia.
authors.forename: Andreas
authors.initials: A
authors.lastname: Nydegger
authors.forename: Maria
authors.initials: M
authors.lastname: Van Dyck
authors.forename: Robert A
authors.initials: RA
authors.lastname: Fisher
authors.forename: Jaak
authors.initials: J
authors.lastname: Jaeken
authors.forename: Winita
authors.initials: W
authors.lastname: Hardikar
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D000328:Adult; D002648:Child; D002971:Cleft Lip / Q000235:genetics / Q000473:pathology / Q000601:surgery; D002972:Cleft Palate / Q000235:genetics / Q000473:pathology / Q000601:surgery; D005260:Female; D005500:Follow-Up Studies; D005767:Gastrointestinal Diseases / Q000235:genetics / Q000473:pathology / Q000601:surgery; D006801:Humans; D007668:Kidney / Q000473:pathology / Q000601:surgery; D007674:Kidney Diseases / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D008099:Liver / Q000473:pathology / Q000601:surgery; D008107:Liver Diseases / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D011788:Quality of Life; D035583:Rare Diseases / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D013577:Syndrome; D013997:Time Factors; D016896:Treatment Outcome