[CNS pathology in hereditary syndromes of congenital developmental defects].
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.
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D002490:Central Nervous System / Q000002:abnormalities* / Q000473:pathology; D002869:Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D025063:Chromosome Disorders; D005260:Female; D005313:Fetal Death / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D011247:Pregnancy; D013577:Syndrome
Patologiia TsNS pri nasledstvennykh sindromakh vrozhdennykh porokov razvitiia.