Adams-Oliver syndrome and hepatoportal sclerosis: Occasional association or common mechanism?
Adams-Oliver syndrome and hepatoportal sclerosis: Occasional association or common mechanism?
复制标题
DOI：
10.1002/ajmg.a.30724
复制
发表时间：
2005-06-01
影响因子：
2
通讯作者：
Jacquemin, E
中科院分区：
文献类型：
--
作者：
Girard, M;Amiel, J;Jacquemin, E
Adams-Oliver综合征（AOS）的特征是头皮和颅骨缺损以及末端肢体异常。先天性心脏畸形也有报道。肝门静脉硬化症是一种罕见的导致儿童门静脉高压症的原因，其特征是肝内门静脉异常、门静脉纤维化和结节性再生。这些罕见疾病的发病机制尚不清楚，但血管血栓形成机制的假说已被提出。只有一个孩子报告了这两种综合征的关联。我们现在报告两个无关的儿童与AOS和HPS，一个孩子窝藏因子V莱顿突变。我们假设这两种疾病的关联可能不是偶然的，并加强了AOS和HPS可能共享血管血栓形成机制的想法。(c)2005 Wiley-Liss，Inc.
Adams-Oliver syndrome (AOS) is characterized by the association of scalp and skull defects and abnormalities of terminal limbs. Congenital heart malformations have also been reported. Hepatoportal sclerosis (HPS) is a rare cause of portal hypertension in children characterized by abnormalities of intra-hepatic portal veins, portal fibrosis, and nodular regeneration. Etiopathogenesis of these rare disorders remains unclear, but the hypothesis of vascular thrombotic mechanism has been suggested. Association of both syndromes has been reported in only one child. We now report on two unrelated children with AOS and HPS, one child harboring a factor V Leiden mutation. We hypothesize that the association of both disorders may not be fortuitous and reinforces the idea that AOS and HPS may share a vascular thrombotic mechanism. (c) 2005 Wiley-Liss, Inc.