| Noonan-like/multiple giant cell lesion syndrome. | |
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MedLine Citation:
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PMID: 1897569 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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A patient with the Noonan-like/multiple giant cell lesion syndrome is reported and the findings in 14 cases are reviewed. Impressive manifestations include short stature, low normal intelligence or developmental delay, ocular hypertelorism, prominent posteriorly angulated ears, giant cell lesions of bones, joints, and/or soft tissues, pectus excavatum, and pulmonic stenosis. It has been difficult to delineate the syndrome because problems in identifying the condition have resulted from incomplete or truncate ascertainment by various medical specialists. |
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Authors:
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M M Cohen; R J Gorlin |
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Publication Detail:
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Type: Case Reports; Journal Article; Review |
Journal Detail:
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Title: American journal of medical genetics Volume: 40 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1991 Aug |
Date Detail:
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Created Date: 1991-10-24 Completed Date: 1991-10-24 Revised Date: 2007-11-15 |
Medline Journal Info:
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Nlm Unique ID: 7708900 Medline TA: Am J Med Genet Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 159-66 Citation Subset: IM |
Affiliation:
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Department of Oral Biology, Faculty of Dentistry, Dalhousie University, Halifax, Nova Scotia, Canada. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple*
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genetics,
pathology Adolescent Bone Diseases* / genetics, pathology Connective Tissue Diseases* / genetics, pathology Female Genes, Dominant / genetics Giant Cells / pathology* Granuloma, Giant Cell / genetics, pathology Humans Male Noonan Syndrome* / genetics, pathology Syndrome Terminology as Topic |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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