| Neurofibromatosis and fragile-X syndrome in the same patient. | |
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MedLine Citation:
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PMID: 3933345 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report on an 11 1/2-year-old boy with neurofibromatosis and the fragile-X syndrome. Clinical manifestation of neurofibromatosis include multiple cafe-au-lait spots, axillary freckles, congenital glaucoma, relative macrocephaly, radiologic findings of overtubulation of the long bones, and precocious puberty. The fragile-X syndrome manifests itself as mental retardation with behavior problems, macro-orchidism, and specific cytogenetic findings. The boy has normal serum hormone levels, but a greatly elevated FSH on a first morning void, which contains the nocturnally secreted gonadotropins. This seems to be the first reported occurrence of the fragile-X syndrome with another inherited disease. |
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Authors:
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J A Mitchell; J Wray; K Michalski |
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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: 22 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1985 Nov |
Date Detail:
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Created Date: 1985-12-13 Completed Date: 1985-12-13 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: 571-5 Citation Subset: IM |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Child, Preschool Fragile X Syndrome / complications* Humans Karyotyping Male Mental Retardation / complications Neurofibromatosis 1 / complications*, pathology Puberty, Precocious / complications* Sex Chromosome Aberrations / complications* Spina Bifida Occulta / pathology Testis / pathology |
| Personal Name Subject | |
Personal Name Subject:
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WZE |
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