ISSN:
1433-0350
Keywords:
Thanatophoric dysplasia
;
Dwarfism
;
Chondrodystrophy
;
Cerebral anomalies
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract Neuropathologic evaluation of two infants with thanatophoric dysplasra 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 distrbution. 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.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00263828
Permalink
