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Digitale Medien

Cerebral abnormalities in thanatophoric dysplasia (1991)

Coulter, Cynthia L. ; Leech, Richard W. ; Brumback, Roger A. ; [weitere]

Springer

Child's nervous system 7 (1991), S. 21-26

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Details

ISSN: 1433-0350

Schlagwort(e): Thanatophoric dysplasia ; Dwarfism ; Chondrodystrophy ; Cerebral anomalies

Quelle: Springer Online Journal Archives 1860-2000

Thema: Medizin

Notizen: 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.

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1007/BF00263828

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