| Specific entities affecting the craniocervical region: syndromes affecting the craniocervical junction. | |
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MedLine Citation:
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PMID: 18369644 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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INTRODUCTION: The craniocervical junction is a vital component in understanding the function of the human central nervous system. It is the threshold for major pathways affecting both brain and spinal cord function, and these structures are intricately housed in a network of bone, ligaments, and soft tissues. Abnormal development of any of these components may lead to altered structure, and therefore, altered function in the central nervous system. MATERIALS AND METHODS: We herein describe a set of genetic syndromes that commonly affect the craniovertebral junction and offer clinical examples from more than 6,000 patients who have been treated for these disorders. DISCUSSION: The syndromes described include Chiari type I malformation, Conradi syndrome, Goldenhar syndrome, Klippel-Feil syndrome, Larsen syndrome, Morquio syndrome, Pierre-Robin syndrome, spondyloepiphyseal dysplasia congenital and Weaver syndrome. The genetic mechanisms responsible for these disorders may offer unique insight into the developmental pathways and patterning in the musculoskeletal and cranial systems and may, ultimately, guide future diagnosis and treatment. |
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Authors:
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Arnold H Menezes; Timothy W Vogel |
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Publication Detail:
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Type: Journal Article Date: 2008-03-28 |
Journal Detail:
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Title: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery Volume: 24 ISSN: 0256-7040 ISO Abbreviation: Childs Nerv Syst Publication Date: 2008 Oct |
Date Detail:
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Created Date: 2008-09-08 Completed Date: 2008-12-02 Revised Date: - |
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: 1155-63 Citation Subset: IM |
Affiliation:
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Department of Neurosurgery, University of Iowa Hospitals and Clinics, 200 Hawkins Drive, 1824 JPP, Iowa, IA 52242, USA. arnold-menezes@uiowa.edu |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Arnold-Chiari Malformation
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pathology,
physiopathology Atlanto-Axial Joint / abnormalities*, physiopathology Atlanto-Occipital Joint / abnormalities*, physiopathology Bone Diseases, Developmental / pathology, physiopathology Central Nervous System / abnormalities*, physiopathology Child Chondrodysplasia Punctata / pathology, physiopathology Humans Nervous System Malformations / pathology*, physiopathology Syndrome |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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