| The association of Buschke-Ollendorf syndrome and nail-patella syndrome. | |
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MedLine Citation:
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PMID: 11907523 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Buschke-Ollendorf syndrome and nail-patella syndrome are both rare connective tissue disorders inherited in an autosomal dominant pattern and characterized by cutaneous and bone lesions. We describe a 3-year-old boy and his family who showed clinical features of both Buschke-Ollendorf syndrome and nail-patella syndrome. To our knowledge, this association has not been reported previously, suggesting that these two connective tissue disorders may share the same gene location with different mutations or involve different mutated genes that share downstream segments of their signaling pathways. Furthermore, this young patient is also affected by a chronic idiopathic neutropenia usually not observed in Buschke-Ollendorf syndrome or nail-patella syndrome. |
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Authors:
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Christian Allen Drouin; Hugues Grenon |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Journal of the American Academy of Dermatology Volume: 46 ISSN: 0190-9622 ISO Abbreviation: J. Am. Acad. Dermatol. Publication Date: 2002 Apr |
Date Detail:
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Created Date: 2002-03-21 Completed Date: 2002-05-03 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 7907132 Medline TA: J Am Acad Dermatol Country: United States |
Other Details:
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Languages: eng Pagination: 621-5 Citation Subset: IM |
Affiliation:
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Centre hospitalier du Grand-Portage, 75 rue St-Henri, Rivière-du-Loup, Quebec G5R 2A4, Canada. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Child, Preschool Connective Tissue Diseases / complications*, genetics Humans Male Nail-Patella Syndrome / complications*, genetics Neutropenia / complications Osteopoikilosis / complications*, genetics Pedigree Syndrome |
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