Hardikar syndrome: long term outcome of a rare genetic disorder.

Détails

ID Serval
serval:BIB_2504D7A1342D
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Titre
Hardikar syndrome: long term outcome of a rare genetic disorder.
Périodique
American Journal of Medical Genetics. Part A
Auteur⸱e⸱s
Nydegger A., Van Dyck M., Fisher R.A., Jaeken J., Hardikar W.
ISSN
1552-4833[electronic]
Statut éditorial
Publié
Date de publication
2008
Volume
146A
Numéro
19
Pages
2468-2472
Langue
anglais
Notes
Publication types: Case Reports ; Journal Article
Résumé
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.
Mots-clé
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
Pubmed
Web of science
Création de la notice
09/04/2008 9:14
Dernière modification de la notice
20/08/2019 13:03
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