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Hemangiomas of the head, neck, and chest with associated vascular and brain anomalies: a complex neurocutaneous syndrome.头、颈和胸部血管瘤伴相关血管及脑部异常：一种复杂的神经皮肤综合征。
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Six3, a murine homologue of the sine oculis gene, demarcates the most anterior border of the developing neural plate and is expressed during eye development.Six3是果蝇无眼基因的小鼠同源物，它划定了发育中神经板的最前端边界，并在眼睛发育过程中表达。
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Hypopituitarism associated with transsphenoidal meningoencephalocele.与经蝶窦脑膜脑膨出相关的垂体功能减退症。
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Cephaloceles: clinical and neuroradiological appearance. Associated cerebral malformations.脑膨出：临床及神经放射学表现。相关脑畸形。
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与经蝶骨脑膨出相关的颈内动脉发育不全：一种神经嵴综合征？

Dysgenesis of the internal carotid artery associated with transsphenoidal encephalocele: a neural crest syndrome?

作者信息

Blustajn J, Netchine I, Frédy D, Bakouche P, Piekarski J D, Meder J F

机构信息

Department of Neuroradiology, Fondation Ophtalmologique A. de Rothschild, Paris, France.

出版信息

AJNR Am J Neuroradiol. 1999 Jun-Jul;20(6):1154-7.

PMID:10445462
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7056245/
Abstract

We describe two original cases of internal carotid artery dysgenesis associated with a malformative spectrum, which includes transsphenoidal encephalocele, optic nerve coloboma, hypopituitarism, and hypertelorism. Cephalic neural crest cells migrate to various regions in the head and neck where they contribute to the development of structures as diverse as the anterior skull base, the walls of the craniofacial arteries, the forebrain, and the face. Data suggest that the link between these rare malformations is abnormal neural crest development.

摘要

我们描述了两例与一系列畸形相关的颈内动脉发育不全的原始病例，这些畸形包括经蝶骨脑膨出、视神经缺损、垂体功能减退和眼距过宽。头部神经嵴细胞迁移至头颈部的各个区域，在那里它们参与多种结构的发育，如前颅底、颅面动脉壁、前脑和面部。数据表明，这些罕见畸形之间的联系是神经嵴发育异常。