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不一致双胎之一出现独眼畸形:一例报告。

Cyclopia in one of discordant twins: a case report.

作者信息

Peng Y, Shieh J L, Jung S M, Wan Y L

机构信息

Department of Pathology, Chang Gung Memorial Hospital, Taipei, Taiwan, R.O.C.

出版信息

Changgeng Yi Xue Za Zhi. 1997 Sep;20(3):232-6.

PMID:9397616
Abstract

Cyclopia is an uncommon congenital anomaly resulting from arrest of the development of the anterior end of the neural plate. It is always associated with abnormalities of the brain. Cyclopia has never been reported in one twin only. In this report, we describe a case of cyclopia in a female infant with normal karyotype who was one of discordant twins. The infant died perinatally. The parents were healthy and not sanguineously related. Prenatal imaging studies revealed cyclopia, holoprosencephaly and hypognathia. Postmortem examinations revealed one orbit, one eyeball and absence of the nose. The central nervous system included rudimentary cerebral hemispheres with fusion of the two lateral ventricles and the third ventricle forming a single large cavity. The superior aspect of each cerebral hemisphere consisted of only a transparent membrane. The olfactory bulb nad tract was absent. The optic nerves were not identified.

摘要

独眼畸形是一种罕见的先天性异常,由神经板前端发育停滞所致。它总是与脑部异常相关。独眼畸形从未仅在单胎中被报道过。在本报告中,我们描述了一例核型正常的女性婴儿独眼畸形病例,该婴儿为不一致性双胎之一。该婴儿在围产期死亡。其父母健康且无血缘关系。产前影像学检查显示独眼畸形、全前脑畸形和小颌畸形。尸检发现仅有一个眼眶、一个眼球且无鼻。中枢神经系统包括发育不全的大脑半球,两个侧脑室和第三脑室融合形成一个单一的大腔。每个大脑半球的上表面仅由一层透明膜组成。嗅球和嗅束缺失。未发现视神经。

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