Copyright
©The Author(s) 2015. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Oct 16, 2015; 3(10): 904-910
Published online Oct 16, 2015. doi: 10.12998/wjcc.v3.i10.904
Published online Oct 16, 2015. doi: 10.12998/wjcc.v3.i10.904
Novel variant syndrome associated with congenital hepatic fibrosis
Yusuf Bayraktar, Ali Shorbagi, Department of Gastroenterology, Faculty of Medicine, Hacettepe University, Ankara 312, Turkey
Ozlem Yonem, Department of Gastroenterology, Cumhuriyet University, Sivas 346, Turkey
Kubilay Varlı, Department of Neurology, Hacettepe University, Ankara 312, Turkey
Hande Taylan, Department of Ophthalmology, Hacettepe University, Ankara 312, Turkey
Cenk Sokmensuer, Department of Pathology, Hacettepe University, Ankara 312, Turkey
Author contributions: All authors contributed to this manuscript.
Institutional review board statement: The study was reviewed and approved by the Hacettepe University Institutional Review Board.
Informed consent statement: All study participants, or their legal guardian, provided informed written consent prior to study enrollment.
Conflict-of-interest statement: The authors declare no conflict of interest.
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non-commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Correspondence to: Yusuf Bayraktar, MD, Department of Gastroenterology, Faculty of Medicine, Hacettepe University, sıhhiye yerlesgesi 06100, Ankara, Turkey. bayrak@hacettepe.edu.tr
Telephone: +90-532-4323966 Fax: +90-312-4429429
Received: February 28, 2015
Peer-review started: March 1, 2015
First decision: April 23, 2015
Revised: May 3, 2015
Accepted: July 15, 2015
Article in press: July 22, 2015
Published online: October 16, 2015
Processing time: 229 Days and 23.6 Hours
Peer-review started: March 1, 2015
First decision: April 23, 2015
Revised: May 3, 2015
Accepted: July 15, 2015
Article in press: July 22, 2015
Published online: October 16, 2015
Processing time: 229 Days and 23.6 Hours
Core Tip
Core tip: Congenital hepatic fibrosis is an inherited disorder that may also accompany other congenital syndromes. Here, we present three siblings with a new variant syndrome characterized by congenital hepatic fibrosis, retinitis pigmentosa, mental retardation, nystagmus, high-arched palate, truncal obesity, and advanced myopia.