Article: article from journal or magazin.
Case report (case report): feedback on an observation with a short commentary.
Hardikar syndrome: long term outcome of a rare genetic disorder.
American Journal of Medical Genetics. Part A
Publication types: Case Reports ; Journal Article
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.
Abnormalities, Multiple/genetics, Abnormalities, Multiple/pathology, Adult, Child, Cleft Lip/genetics, Cleft Lip/pathology, Cleft Palate/genetics, Cleft Palate/pathology, Female, Follow-Up Studies, Gastrointestinal Diseases/genetics, Gastrointestinal Diseases/pathology, Humans, Kidney/pathology, Kidney/surgery, Kidney Diseases/genetics, Kidney Diseases/pathology, Liver/pathology, Liver/surgery, Liver Diseases/genetics, Liver Diseases/pathology, Quality of Life, Rare Diseases/genetics, Rare Diseases/pathology, Syndrome, Time Factors, Treatment Outcome
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