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Hardikar syndrome: Long term outcome of a rare genetic disorder
Author(s) -
Nydegger Andreas,
Van Dyck Maria,
Fisher Robert A.,
Jaeken Jaak,
Hardikar Winita
Publication year - 2008
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32226
Subject(s) - kabuki syndrome , alagille syndrome , etiology , medicine , genetic disorder , disease , congenital hepatic fibrosis , pediatrics , pathology , gastroenterology , portal hypertension , cholestasis , cirrhosis
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. © 2008 Wiley‐Liss, Inc.