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一例新生儿右侧脑发育不全伴先天性无眼畸形的罕见病例。

A rare association of right hemicerebral dysgenesis with congenital anophthalmia in a neonate.

机构信息

Department of Pediatrics, University of South Alabama, Mobile, AL, USA.

Department of Neurology, Child Neurology Division, University of South Alabama, Mobile, AL, USA.

出版信息

Childs Nerv Syst. 2021 Jan;37(1):329-334. doi: 10.1007/s00381-020-04639-x. Epub 2020 May 12.

Abstract

Congenital anophthalmia is rare and can occur due to various etiologies, including genetic defects, teratogenic exposures, and vascular disruptions. We report a rare case of right-sided congenital anophthalmia and hemicerebral dysgenesis in association with ipsilateral hemicerebral vascular dysgenesis in a neonate. Postnatal neuroimaging was conspicuous for a "bare orbit sign." A unilateral cranial neurocristopathy was suspected to be an underlying etiopathology for such a diffuse defect.

摘要

先天性无眼症较为罕见,其病因包括遗传缺陷、致畸暴露和血管异常等。我们报告一例新生儿右侧先天性无眼症伴同侧半脑发育不良及半脑血管发育不良病例。产后神经影像学检查显示“眶窝缺失征”。单侧颅神经嵴病变被怀疑是这种弥漫性缺陷的潜在病因。

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