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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.

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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