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Cerebral Abnormalities in Thanatophoric Dysplasia by Cynthia L. Coulter; Richard W. Leech; Roger A. Brumback; G. Bradley Schaefer is a Medicine article available to read on EtoBox.

What is Cerebral Abnormalities in Thanatophoric Dysplasia about?

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.

Who reads Cerebral Abnormalities in Thanatophoric Dysplasia?

Author

Cynthia L. Coulter; Richard W. Leech; Roger A. Brumback; G. Bradley Schaefer

Publisher

Springer; Springer-Verlag; Springer Verlag; Springer Science and Business Media LLC (ISSN 0256-7040)

Published

1991

Language

EN

Field

Medicine (Health Sciences)