HARDIKAR-SYNDROME - A NEW SYNDROME WITH CLEFT LIP PALATE, PIGMENTARY RETINOPATHY AND CHOLESTASIS/

Authors
COOLS F JAEKEN J
Citation
F. Cools et J. Jaeken, HARDIKAR-SYNDROME - A NEW SYNDROME WITH CLEFT LIP PALATE, PIGMENTARY RETINOPATHY AND CHOLESTASIS/, American journal of medical genetics, 71(4), 1997, pp. 472-474
Citations number
8
Categorie Soggetti
Genetics & Heredity
Journal title
American journal of medical genetics → ACNP
ISSN journal
01487299
Volume
71
Issue
4
Year of publication
1997
Pages
472 - 474
Database
ISI
SICI code
0148-7299(1997)71:4<472:H-ANSW>2.0.ZU;2-H
Abstract
We present a child with a remarkable constellation of abnormalities co mprising cleft lip and palate, pigmentary retinopathy, hydronephrosis, malrotation of the gut and obstructive liver disease. This patient, t ogether with two other reported cases, seems to represent a new syndro me with some similarities to the Kabuki syndrome. (C) 1997 Wiley-Liss, Inc.