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先天性真性独眼并多指畸形:病例报告及文献复习

Congenital disorder of true cyclopia with polydactylia: case report and review of the literature.

作者信息

Deftereou T E, Tsoulopoulos V, Alexiadis G, Papadopoulos E, Chouridou E, Katotomichelakis M, Lambropoulou M

机构信息

Department of Pharmacology, Democritus University of Thrace, Alexandroupolis, Greece.

出版信息

Clin Exp Obstet Gynecol. 2013;40(3):460-2.

PMID:24283191
Abstract

Cyclopia is a rare type of holoprosencephaly and a congenital disorder characterized by the failure of the embryonic forebrain to properly divide the orbits of the eye into two cavities (the embryonic forebrain is normally responsible for inducing the development of the orbits). As a result a birth defect in which there is only one eye is developed. This eye is centrally placed in the area normally occupied by the root of the nose. As a rule, there is a missing nose or a non-functioning nose in the form of a proboscis (a tubular appendage) located above the central eye. In this report the macroscopic, radiographic, and immunohistochemical findings of a case of true cyclopia in a female fetus are described. Cyclopia is a lethal condition that is associated with dramatic symmetric deformities of the nose, skull, orbits, and brain.

摘要

独眼畸形是一种罕见的全前脑畸形,属于先天性疾病,其特征为胚胎前脑未能将眼眶正常分隔为两个腔(胚胎前脑通常负责诱导眼眶发育)。结果导致一种出生缺陷,即仅形成一只眼睛。这只眼睛位于通常由鼻根部占据的中央区域。通常,会出现缺失鼻子的情况,或者在中央眼睛上方有一个呈长鼻状(管状附属物)的无功能鼻子。在本报告中,描述了一名女性胎儿真性独眼畸形病例的大体、影像学和免疫组化检查结果。独眼畸形是一种致命疾病,与鼻子、颅骨、眼眶和脑部的显著对称性畸形有关。

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1
Congenital disorder of true cyclopia with polydactylia: case report and review of the literature.先天性真性独眼并多指畸形:病例报告及文献复习
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Cyclopia, proboscis and alobar holoprosencephaly representative for trisomy 13.独眼畸形、鼻畸形和无脑叶全前脑畸形是13三体综合征的典型表现。
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引用本文的文献

1
The human brain and face: mechanisms of cranial, neurological and facial development revealed through malformations of holoprosencephaly, cyclopia and aberrations in chromosome 18.人类大脑与面部:通过全前脑畸形、独眼畸形及18号染色体畸变揭示的颅骨、神经及面部发育机制
J Anat. 2015 Sep;227(3):255-67. doi: 10.1111/joa.12343.
2
Genetically induced abnormal cranial development in human trisomy 18 with holoprosencephaly: comparisons with the normal tempo of osteogenic-neural development.人类18三体综合征合并前脑无裂畸形的基因诱导性颅骨发育异常:与成骨-神经发育正常进程的比较
J Anat. 2015 Jul;227(1):21-33. doi: 10.1111/joa.12326. Epub 2015 May 28.
3
Antenatal diagnosis of alobar holoprosencephaly.
无脑叶全前脑畸形的产前诊断。
Case Rep Radiol. 2014;2014:724671. doi: 10.1155/2014/724671. Epub 2014 Jul 14.