Document Detail


Cerebral abnormalities in thanatophoric dysplasia.
MedLine Citation:
PMID:  2054803     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
C L Coulter; R W Leech; R A Brumback; G B Schaefer
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery     Volume:  7     ISSN:  0256-7040     ISO Abbreviation:  Childs Nerv Syst     Publication Date:  1991 Feb 
Date Detail:
Created Date:  1991-08-01     Completed Date:  1991-08-01     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  8503227     Medline TA:  Childs Nerv Syst     Country:  GERMANY    
Other Details:
Languages:  eng     Pagination:  21-6     Citation Subset:  IM    
Affiliation:
Department of Neurology, University of Oklahoma College of Medicine, Oklahoma City.
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MeSH Terms
Descriptor/Qualifier:
Brain / abnormalities*,  pathology
Cerebral Cortex / abnormalities,  pathology
Female
Humans
Infant, Newborn
Male
Thanatophoric Dysplasia / pathology*

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