| Cerebral abnormalities in thanatophoric dysplasia. | |
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MedLine Citation:
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PMID: 2054803 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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C L Coulter; R W Leech; R A Brumback; G B Schaefer |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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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:
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Created Date: 1991-08-01 Completed Date: 1991-08-01 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 8503227 Medline TA: Childs Nerv Syst Country: GERMANY |
Other Details:
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Languages: eng Pagination: 21-6 Citation Subset: IM |
Affiliation:
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Department of Neurology, University of Oklahoma College of Medicine, Oklahoma City. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Brain
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abnormalities*,
pathology Cerebral Cortex / abnormalities, pathology Female Humans Infant, Newborn Male Thanatophoric Dysplasia / pathology* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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