CEREBRAL ABNORMALITIES IN THANATOPHORIC DYSPLASIA

被引：24

作者：

COULTER, CL

LEECH, RW

BRUMBACK, RA

SCHAEFER, GB

机构：

[1] UNIV OKLAHOMA,COLL MED,DEPT NEUROL,OKLAHOMA CITY,OK

[2] UNIV OKLAHOMA,COLL MED,DEPT PATHOL,OKLAHOMA CITY,OK

[3] UNIV OKLAHOMA,COLL MED,DEPT PEDIAT,OKLAHOMA CITY,OK

[4] VET AFFAIRS MED CTR,OKLAHOMA CITY,OK

来源：

CHILDS NERVOUS SYSTEM | 1991年 / 7卷 / 01期

关键词：

THANATOPHORIC DYSPLASIA; DWARFISM; CHONDRODYSTROPHY; CEREBRAL ANOMALIES;

D O I：

10.1007/BF00263828

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Neuropathologic evaluation of two infants with thanatophoric dysplasia displayed typical gross morphologic characteristics and a distinct pattern of brain malformations, including anomalies of the temporal lobe gyri and hippocampus, neuroglial heterotopias, fiber tract hypoplasia, and dysplasia of deep nuclei. Increased numbers of horizontal cells of Cajal-Retzius were striking in frequency and distribution. The pattern of abnormalities suggests arrest of cerebral cortical ontogeny late in development. As with the mucopolysaccharidoses, a shared common metabolic pathway is a potential mechanism for development of widespread bony and somatic abnormalities and associated central nervous system anomalies.

引用

页码：21 / 26

页数：6

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