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无脑畸形产前未诊断。

Cerebral malformations without antenatal diagnosis.

机构信息

Diagnostic Neuroradiology, Hôpital Timone, 264 Rue Saint Pierre, 13385 Marseille cedex 5, France.

出版信息

Pediatr Radiol. 2010 Jun;40(6):834-43. doi: 10.1007/s00247-010-1595-9. Epub 2010 Apr 30.

DOI:10.1007/s00247-010-1595-9
PMID:20432001
Abstract

Cerebral malformations are usually described following the different steps in development. Disorders of neurulation (dysraphisms), or diverticulation (holoprosencephalies and posterior fossa cysts), and total commissural agenesis are usually diagnosed in utero. In contrast, disorders of histogenesis (proliferation-differentiation, migration, organization) are usually discovered in infants and children. The principal clinical symptoms that may be a clue to cerebral malformation include congenital hemiparesis, epilepsy and mental or psychomotor retardation. MRI is the imaging method of choice to assess cerebral malformations.

摘要

脑畸形通常按照不同的发育阶段进行描述。神经管发育障碍(发育不全)或分裂(全前脑和后颅窝囊肿)以及总连合缺失通常在宫内即可诊断。相比之下,组织发生障碍(增殖-分化、迁移、组织)通常在婴儿和儿童中发现。可能提示脑畸形的主要临床症状包括先天性偏瘫、癫痫和精神或精神运动发育迟缓。MRI 是评估脑畸形的首选影像学方法。

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Abnormal development of the human cerebral cortex: genetics, functional consequences and treatment options.
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