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

TitleHardikar syndrome: long term outcome of a rare genetic disorder.
Publication TypeJournal Article
Year of Publication2008
AuthorsNydegger A, Van Dyck M, Fisher RA, Jaeken J, Hardikar W
JournalAmerican journal of medical genetics. Part A
Volume146A
Issue19
Pagination2468-72
Date Published2008 Oct 1
Abstract

Hardikar syndromei is a rare disorder of unknown etiologyi. Features of the syndrome are manifold with a predominance of liver and renali involvement. The syndrome is clearly distinct from other previously described syndromes such as Alagille syndrome, congenitali 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.

Alternate JournalAm. J. Med. Genet. A
Citation Key18348269