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[先天性发育缺陷遗传性综合征中的中枢神经系统病理学]

[CNS pathology in hereditary syndromes of congenital developmental defects].

作者信息

Ostrovskaia T I

出版信息

Arkh Patol. 1985;47(10):42-8.

PMID:3840990
Abstract

Analysis of the incidence and diagnostic importance of the congenital central nervous system (CNS) defects in 334 children with multiple congenital developmental defects (MCDD) dying under 1 year allowed the author to distinguish 4 groups of defects according to their informative value for establishing the nosological diagnosis: defects of a high, moderate, small informative value and noninformative ones. Special microscopic study of the CNS performed in 116 stillborns and children of the first year of life with various MCDD showed the disturbance of main morphogenetic processes (mitotic cell activity, cell migration, differentiation and maturation) as a basis of the observed pathological conditions. General rules of the CNS developmental defects in chromosomal and non-chromosomal syndromes may point to the common routes of the genetic material realization.

摘要

对334例1岁以下死于多种先天性发育缺陷(MCDD)的儿童的先天性中枢神经系统(CNS)缺陷的发生率及诊断重要性进行分析后,作者根据其对建立疾病诊断的信息价值将缺陷分为4组:高信息价值、中等信息价值、低信息价值和无信息价值的缺陷。对116例死产儿及1岁以内患有各种MCDD的儿童的中枢神经系统进行的特殊显微镜研究表明,主要形态发生过程(有丝分裂细胞活性、细胞迁移、分化和成熟)的紊乱是所观察到的病理状况的基础。染色体和非染色体综合征中中枢神经系统发育缺陷的一般规律可能指向遗传物质实现的共同途径。

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