Hardikar syndrome: a new syndrome with cleft lip/palate, pigmentary retinopathy and cholestasis.

TitleHardikar syndrome: a new syndrome with cleft lip/palate, pigmentary retinopathy and cholestasis.
Publication TypeJournal Article
Year of Publication1997
AuthorsCools F, Jaeken J
JournalAmerican journal of medical genetics
Volume71
Issue4
Pagination472-4
Date Published1997 Sep 5
Abstract

We present a child with a remarkable constellation of abnormalities comprising cleft lip and palate, pigmentary retinopathy, hydronephrosisi, malrotation of the gut and obstructive liver disease. This patient, together with two other reported cases, seems to represent a new syndrome with some similarities to the Kabuki syndrome.

Alternate JournalAm. J. Med. Genet.
Citation Key9286458