Holoprosencephaly: Review of Embryology, Clinical Phenotypes, Etiology and Management.
Holoprosencephaly: Review of Embryology, Clinical Phenotypes, Etiology and Management.
复制标题
DOI：
10.3390/children10040647
复制
发表时间：
2023-03-30
期刊：
影响因子：
--
通讯作者：
中科院分区：
文献类型：
--
作者：
前脑无裂畸形（HPE）是人类前脑最常见的畸形。它的特点是连续的结构性脑异常所造成的中线分裂前脑的失败。HPE的三个经典亚型是无叶型、半叶型和叶型，尽管在这个原始分类中增加了一些额外的类别。临床表型的严重程度是广泛的，通常反映了放射学和相关的面部特征。HPE的病因包括环境和遗传因素。HPE的主要病理生理机制是SHH信号的破坏。在大部分HPE患者中发现非整倍体、染色体拷贝数变异和单基因疾病。尽管出生后死亡率高，发育迟缓的存在不变，近年来诊断方法的进步和患者管理的改善有助于提高生存率。本文就HPE的分类、临床特点、遗传和环境病因学以及治疗方法进行了综述。
Holoprosencephaly (HPE) is the most common malformation of the prosencephalon in humans. It is characterized by a continuum of structural brain anomalies resulting from the failure of midline cleavage of the prosencephalon. The three classic subtypes of HPE are alobar, semilobar and lobar, although a few additional categories have been added to this original classification. The severity of the clinical phenotype is broad and usually mirrors the radiologic and associated facial features. The etiology of HPE includes both environmental and genetic factors. Disruption of sonic hedgehog (SHH) signaling is the main pathophysiologic mechanism underlying HPE. Aneuploidies, chromosomal copy number variants and monogenic disorders are identified in a large proportion of HPE patients. Despite the high postnatal mortality and the invariable presence of developmental delay, recent advances in diagnostic methods and improvements in patient management over the years have helped to increase survival rates. In this review, we provide an overview of the current knowledge related to HPE, and discuss the classification, clinical features, genetic and environmental etiologies and management.
登录
查看更多内容
影响因子：
3.5
作者：
Bertolacini CD;Ribeiro-Bicudo LA;Petrin A;Richieri-Costa A;Murray JC
通讯作者：
Murray JC
影响因子：
2
作者：
Cohen, MM
通讯作者：
Cohen, MM
影响因子：
3
作者：
Edwards, Lindsay;Hui, Lisa
通讯作者：
Hui, Lisa
DOI：
10.1002/ajmg.c.30243
发表时间：
2010-02-15
影响因子：
3.1
作者：
Haas, Dorothea;Muenke, Maximilian
通讯作者：
Muenke, Maximilian
影响因子：
3.5
作者：
Brown, LY;Odent, S;Muenke, M
通讯作者：
Muenke, M