| Aortic hypoplasia and cardiac valvular abnormalities in a boy with fragile X syndrome. | |
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MedLine Citation:
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PMID: 2972207 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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An 18-year-old mentally retarded male with the Martin-Bell syndrome was fragile X positive. He died suddenly with viral pneumonia and myocarditis. At autopsy, generalized tubular hypoplasia of the aorta and a mild coarctation were discovered. The base of the mitral and tricuspid valves showed striking aberrations in elastin distribution and structure by light microscopy. Local collagen alterations were also noted. Comparable changes were seen in the skin elastin as well as a severe depletion of acid mucopolysaccharides. These changes suggest a structural disruption underlying the clinical connective tissue problems in some patients with the fragile X syndrome. |
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Authors:
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G Waldstein; R Hagerman |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: American journal of medical genetics Volume: 30 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1988 May-Jun |
Date Detail:
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Created Date: 1988-11-08 Completed Date: 1988-11-08 Revised Date: 2004-11-17 |
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: 83-98 Citation Subset: IM |
Affiliation:
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Department of Pathology, Children's Hospital, Denver, CO 80218. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Aorta / abnormalities* Collagen / metabolism Connective Tissue / metabolism, pathology Elastin / metabolism Fragile X Syndrome / genetics, metabolism, pathology* Glycosaminoglycans / metabolism Heart Valves / abnormalities* Humans Male Pedigree Sex Chromosome Aberrations / pathology* |
| Chemical | |
Reg. No./Substance:
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0/Glycosaminoglycans; 9007-34-5/Collagen; 9007-58-3/Elastin |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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