| Radiologic manifestations of Proteus syndrome. | |
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MedLine Citation:
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PMID: 15256628 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Proteus syndrome is a sporadic disorder named for its highly variable manifestations. The disease causes tissue overgrowth in a mosaic pattern and may affect tissues derived from any germinal layer. The disease process is not usually apparent at birth but develops rapidly in childhood. Common manifestations include macrodactyly, vertebral abnormalities, asymmetric limb overgrowth and length discrepancy, hyperostosis, abnormal and asymmetric fat distribution, asymmetric muscle development, connective-tissue nevi, and vascular malformations. The features of Proteus syndrome indicate that the condition may be caused by a somatic alteration in a gene, but no specific genetic mutation has yet been identified. Therefore, the diagnosis and management of the disease depend heavily on clinical evaluation and imaging. Although the manifestations of Proteus syndrome are highly variable, accurate diagnosis is possible if standard diagnostic criteria are followed and if disease features are assessed in comparison with those found in similar syndromes. |
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Authors:
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Carlos A Jamis-Dow; Joyce Turner; Leslie G Biesecker; Peter L Choyke |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't; Review |
Journal Detail:
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Title: Radiographics : a review publication of the Radiological Society of North America, Inc Volume: 24 ISSN: 1527-1323 ISO Abbreviation: Radiographics Publication Date: 2004 Jul-Aug |
Date Detail:
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Created Date: 2004-07-16 Completed Date: 2005-02-17 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 8302501 Medline TA: Radiographics Country: United States |
Other Details:
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Languages: eng Pagination: 1051-68 Citation Subset: IM |
Copyright Information:
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Copyright RSNA, 2004 |
Affiliation:
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Department of Radiology, Georgetown University Hospital, Washington, DC, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adipose Tissue
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pathology Adolescent Adult Bone and Bones / pathology, radiography Child Diagnosis, Differential Female Humans Infant Magnetic Resonance Imaging Male Neoplastic Syndromes, Hereditary / pathology, radiography Phenotype Proteus Syndrome / diagnosis, genetics, pathology, radiography* Viscera / pathology, radiography |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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