Novel variant syndrome associated with congenital hepatic fibrosis

作     者：Yusuf Bayraktar Ozlem Yonem Kubilay Varl? Hande Taylan Ali Shorbagi Cenk Sokmensuer 

作者机构：Department of GastroenterologyFaculty of MedicineHacettepe University Department of Gastroenterology Cumhuriyet University Department of NeurologyHacettepe University Department of OphthalmologyHacettepe University Department of PathologyHacettepe University 

出 版 物：《World Journal of Clinical Cases》 (世界临床病例杂志)

年 卷 期：2015年第3卷第10期

页      面：904-910页

核心收录：

学科分类：1002[医学-临床医学] 100201[医学-内科学(含：心血管病、血液病、呼吸系病、消化系病、内分泌与代谢病、肾病、风湿病、传染病)] 10[医学] 

主　　题：Congenital hepatic fibrosis Nystagmus Mental retardation Retinitis pigmentosa High-arched palate 

摘      要：Congenital hepatic fibrosis is part of many different malformation syndromes, of which oculo-encephalohepato-renal syndrome is the most common. These syndromes largely overlap, and so accurate classification of individual patients may be difficult. We present herein three syndromic siblings who were products of a consanguineous marriage. We investigated in detail at least six organ systems in these patients, namely the liver, brain, eye, kidneys, skeleton, and gonads. The common features observed in these three cases were congenital hepatic fibrosis, retinitis pigmentosa, truncal obesity, rotatory nystagmus, mental retardation, advanced myopia, and high-arched palate. The clinical dysmorphology in these patients was distinct and lacked the major features of the known syndromes associated with congenital hepatic fibrosis. Although some features of these presented cases are similar to those found in Bardet-Biedl syndrome(BBS), the absence of some major criteria of BBS(polydactyly, renal abnormality, and hypogonadism) suggests that this may be a new syndrome. All three patients remain under follow-up in the departments of Gastroenterology, Ophthalmology, and Neurology at Hacettepe University.