Hereditary macrothrombocytopathia, deafness and nephritis (Epstein's triad)
Epstein's triad is a syndrome with a combination of hereditary macrothrombocytopathia and progressive sensorineural hearing loss and nephritis. This syndrome is rare and may be inherited as dominant trait or sex-linked or new mutation. But the true mode of this syndrome is still questionable. B...
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| Veröffentlicht in: | International journal of pediatric otorhinolaryngology 1985-08, Vol.9 (3), p.257-261 |
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| container_end_page | 261 |
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| container_issue | 3 |
| container_start_page | 257 |
| container_title | International journal of pediatric otorhinolaryngology |
| container_volume | 9 |
| creator | Özşahinoǧlu, Can Kümi, Metin Kilinç, Yurdanur Mete, Riza |
| description | Epstein's triad is a syndrome with a combination of hereditary macrothrombocytopathia and progressive sensorineural hearing loss and nephritis. This syndrome is rare and may be inherited as dominant trait or sex-linked or new mutation. But the true mode of this syndrome is still questionable. Bilateral sensorineural hearing loss is progressive and seems not to be related to the severity of bleeding episodes and renal failure. An 8-year-old boy with these findings is presented and discussed in this article. |
| doi_str_mv | 10.1016/S0165-5876(85)80042-2 |
| format | Article |
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This syndrome is rare and may be inherited as dominant trait or sex-linked or new mutation. But the true mode of this syndrome is still questionable. Bilateral sensorineural hearing loss is progressive and seems not to be related to the severity of bleeding episodes and renal failure. An 8-year-old boy with these findings is presented and discussed in this article.</description><identifier>ISSN: 0165-5876</identifier><identifier>EISSN: 1872-8464</identifier><identifier>DOI: 10.1016/S0165-5876(85)80042-2</identifier><identifier>PMID: 4055260</identifier><identifier>CODEN: IPOTDJ</identifier><language>eng</language><publisher>Amsterdam: Elsevier Ireland Ltd</publisher><subject>Biological and medical sciences ; bleeding tendency ; Blood Platelet Disorders - complications ; Blood Platelet Disorders - genetics ; Blood Platelet Disorders - pathology ; Child ; Complex syndromes ; deafness ; Epstein's triad ; Hearing Loss, Sensorineural - complications ; Humans ; macrothrombocytopathia ; Male ; Medical genetics ; Medical sciences ; nephritis ; Nephritis - complications ; Syndrome ; thrombocytopenia ; Thrombocytopenia - pathology</subject><ispartof>International journal of pediatric otorhinolaryngology, 1985-08, Vol.9 (3), p.257-261</ispartof><rights>1985 Elsevier Science Publishers B.V. 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This syndrome is rare and may be inherited as dominant trait or sex-linked or new mutation. But the true mode of this syndrome is still questionable. Bilateral sensorineural hearing loss is progressive and seems not to be related to the severity of bleeding episodes and renal failure. An 8-year-old boy with these findings is presented and discussed in this article.</description><subject>Biological and medical sciences</subject><subject>bleeding tendency</subject><subject>Blood Platelet Disorders - complications</subject><subject>Blood Platelet Disorders - genetics</subject><subject>Blood Platelet Disorders - pathology</subject><subject>Child</subject><subject>Complex syndromes</subject><subject>deafness</subject><subject>Epstein's triad</subject><subject>Hearing Loss, Sensorineural - complications</subject><subject>Humans</subject><subject>macrothrombocytopathia</subject><subject>Male</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>nephritis</subject><subject>Nephritis - complications</subject><subject>Syndrome</subject><subject>thrombocytopenia</subject><subject>Thrombocytopenia - pathology</subject><issn>0165-5876</issn><issn>1872-8464</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1985</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkMlKBDEQQIMo47h8gtAHcQFbs3bSJxFxQ8GDeg7ppJqJTC8mGcG_N-MMc_VSdahX20PoiOBLgkl19ZaDKIWS1ZkS5wpjTku6haZESVoqXvFtNN0gu2gvxk-MicRCTNCE50QrPEXPjxDA-WTCT9EZG4Y0C0PXDPYnDaNJM28uCgem7SHGwvSu6GGcBZ98LM7uxpjA96exSMEbd36Adlozj3C4zvvo4_7u_faxfHl9eLq9eSktYzKVxNWcM84Yw7V0QAxtG8GaurHUEqVAEAqsVq5ijta0dca10LQNNNRWHECxfXSymjuG4WsBMenORwvzuelhWEQtqzxeSJFBsQLzXzEGaPUYfJdf1QTrpUT9J1EvDWkl9J9ETXPf0XrBounAbbrW1nL9eF030Zp5G0xvfdxgisuKEpmx6xUGWca3h6Cj9dDb7DuATdoN_p9DfgHUKo7N</recordid><startdate>198508</startdate><enddate>198508</enddate><creator>Özşahinoǧlu, Can</creator><creator>Kümi, Metin</creator><creator>Kilinç, Yurdanur</creator><creator>Mete, Riza</creator><general>Elsevier Ireland Ltd</general><general>Elsevier</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope><scope>8BM</scope></search><sort><creationdate>198508</creationdate><title>Hereditary macrothrombocytopathia, deafness and nephritis (Epstein's triad)</title><author>Özşahinoǧlu, Can ; Kümi, Metin ; Kilinç, Yurdanur ; Mete, Riza</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c337t-1d94434333097de1a2fb53b9bc2c188e512e398d63d292fdadfebfbeb2c64ee83</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1985</creationdate><topic>Biological and medical sciences</topic><topic>bleeding tendency</topic><topic>Blood Platelet Disorders - complications</topic><topic>Blood Platelet Disorders - genetics</topic><topic>Blood Platelet Disorders - pathology</topic><topic>Child</topic><topic>Complex syndromes</topic><topic>deafness</topic><topic>Epstein's triad</topic><topic>Hearing Loss, Sensorineural - complications</topic><topic>Humans</topic><topic>macrothrombocytopathia</topic><topic>Male</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>nephritis</topic><topic>Nephritis - complications</topic><topic>Syndrome</topic><topic>thrombocytopenia</topic><topic>Thrombocytopenia - pathology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Özşahinoǧlu, Can</creatorcontrib><creatorcontrib>Kümi, Metin</creatorcontrib><creatorcontrib>Kilinç, Yurdanur</creatorcontrib><creatorcontrib>Mete, Riza</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><collection>ComDisDome</collection><jtitle>International journal of pediatric otorhinolaryngology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Özşahinoǧlu, Can</au><au>Kümi, Metin</au><au>Kilinç, Yurdanur</au><au>Mete, Riza</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Hereditary macrothrombocytopathia, deafness and nephritis (Epstein's triad)</atitle><jtitle>International journal of pediatric otorhinolaryngology</jtitle><addtitle>Int J Pediatr Otorhinolaryngol</addtitle><date>1985-08</date><risdate>1985</risdate><volume>9</volume><issue>3</issue><spage>257</spage><epage>261</epage><pages>257-261</pages><issn>0165-5876</issn><eissn>1872-8464</eissn><coden>IPOTDJ</coden><abstract>Epstein's triad is a syndrome with a combination of hereditary macrothrombocytopathia and progressive sensorineural hearing loss and nephritis. This syndrome is rare and may be inherited as dominant trait or sex-linked or new mutation. But the true mode of this syndrome is still questionable. Bilateral sensorineural hearing loss is progressive and seems not to be related to the severity of bleeding episodes and renal failure. An 8-year-old boy with these findings is presented and discussed in this article.</abstract><cop>Amsterdam</cop><pub>Elsevier Ireland Ltd</pub><pmid>4055260</pmid><doi>10.1016/S0165-5876(85)80042-2</doi><tpages>5</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0165-5876 |
| ispartof | International journal of pediatric otorhinolaryngology, 1985-08, Vol.9 (3), p.257-261 |
| issn | 0165-5876 1872-8464 |
| language | eng |
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| source | MEDLINE; Elsevier ScienceDirect Journals |
| subjects | Biological and medical sciences bleeding tendency Blood Platelet Disorders - complications Blood Platelet Disorders - genetics Blood Platelet Disorders - pathology Child Complex syndromes deafness Epstein's triad Hearing Loss, Sensorineural - complications Humans macrothrombocytopathia Male Medical genetics Medical sciences nephritis Nephritis - complications Syndrome thrombocytopenia Thrombocytopenia - pathology |
| title | Hereditary macrothrombocytopathia, deafness and nephritis (Epstein's triad) |
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