Trichorhinophalangeal syndrome type I
A 32‐year‐old short statured woman with alopecia, typical facies, shortened angulated fingers and toes with Trichorhinophalangeal syndrome type I (TRPS I) is reported. The absence of exostosis and mental retardation rule out TRPS II. The absence of generalized shortness of all phalanges, metacarpals...
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| Veröffentlicht in: | Journal of the European Academy of Dermatology and Venereology 1998-07, Vol.11 (1), p.66-68 |
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| container_end_page | 68 |
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| container_issue | 1 |
| container_start_page | 66 |
| container_title | Journal of the European Academy of Dermatology and Venereology |
| container_volume | 11 |
| creator | George, Soshamma Pulimood, Susanne Korah, Ipeson |
| description | A 32‐year‐old short statured woman with alopecia, typical facies, shortened angulated fingers and toes with Trichorhinophalangeal syndrome type I (TRPS I) is reported. The absence of exostosis and mental retardation rule out TRPS II. The absence of generalized shortness of all phalanges, metacarpals and metatarsals distinguish it from TRPS III. Possibly the various types of Trichorhinophalangeal syndrome are genetically identical but have a varied clinical spectrum. |
| doi_str_mv | 10.1111/j.1468-3083.1998.tb00957.x |
| format | Article |
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The absence of exostosis and mental retardation rule out TRPS II. The absence of generalized shortness of all phalanges, metacarpals and metatarsals distinguish it from TRPS III. Possibly the various types of Trichorhinophalangeal syndrome are genetically identical but have a varied clinical spectrum.</description><identifier>ISSN: 0926-9959</identifier><identifier>EISSN: 1468-3083</identifier><identifier>DOI: 10.1111/j.1468-3083.1998.tb00957.x</identifier><identifier>PMID: 9731970</identifier><language>eng</language><publisher>Oxford, UK: Blackwell Publishing Ltd</publisher><subject>Adult ; Alopecia - pathology ; Brachyphalangeal dysostoses ; Female ; Finger Joint - abnormalities ; Finger Joint - diagnostic imaging ; Fingers - abnormalities ; Humans ; Nose - abnormalities ; Radiography ; Syndrome ; Toe Joint - abnormalities ; Toe Joint - diagnostic imaging ; Toes - abnormalities ; Trichorhinophalangeal syndrome</subject><ispartof>Journal of the European Academy of Dermatology and Venereology, 1998-07, Vol.11 (1), p.66-68</ispartof><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3006-989a9a70f00ba632c263af39bc9254a2da9a693a228f0066afcd3dc70e5db2933</citedby><cites>FETCH-LOGICAL-c3006-989a9a70f00ba632c263af39bc9254a2da9a693a228f0066afcd3dc70e5db2933</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1111%2Fj.1468-3083.1998.tb00957.x$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fj.1468-3083.1998.tb00957.x$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,776,780,1411,27901,27902,45550,45551</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/9731970$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>George, Soshamma</creatorcontrib><creatorcontrib>Pulimood, Susanne</creatorcontrib><creatorcontrib>Korah, Ipeson</creatorcontrib><title>Trichorhinophalangeal syndrome type I</title><title>Journal of the European Academy of Dermatology and Venereology</title><addtitle>J Eur Acad Dermatol Venereol</addtitle><description>A 32‐year‐old short statured woman with alopecia, typical facies, shortened angulated fingers and toes with Trichorhinophalangeal syndrome type I (TRPS I) is reported. The absence of exostosis and mental retardation rule out TRPS II. The absence of generalized shortness of all phalanges, metacarpals and metatarsals distinguish it from TRPS III. Possibly the various types of Trichorhinophalangeal syndrome are genetically identical but have a varied clinical spectrum.</description><subject>Adult</subject><subject>Alopecia - pathology</subject><subject>Brachyphalangeal dysostoses</subject><subject>Female</subject><subject>Finger Joint - abnormalities</subject><subject>Finger Joint - diagnostic imaging</subject><subject>Fingers - abnormalities</subject><subject>Humans</subject><subject>Nose - abnormalities</subject><subject>Radiography</subject><subject>Syndrome</subject><subject>Toe Joint - abnormalities</subject><subject>Toe Joint - diagnostic imaging</subject><subject>Toes - abnormalities</subject><subject>Trichorhinophalangeal syndrome</subject><issn>0926-9959</issn><issn>1468-3083</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1998</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqVkMtOwzAQRS0EKqXwCUgVEuwSxnbjZJBYVOVVVIlNYWs5jkNTJU2wW9H8PY4adc9sZnHvncch5IZCSH3dr0M6EUnAIeEhRUzCbQqAURzuT8jwKJ2SISATAWKE5-TCuTUAUBolAzLAmFOMYUhul7bQq9quik3drFSpNt9GlWPXbjJbV2a8bRsznl-Ss1yVzlz1fUQ-X56Xs7dg8fE6n00XgeYAflOCClUMOUCqBGeaCa5yjqlGFk0Uy7wqkCvGEm8RQuU645mOwURZypDzEbk7zG1s_bMzbiurwmlT-rNMvXMy5ol_ZkK98eFg1LZ2zppcNraolG0lBdkxkmvZgZAdCNkxkj0juffh637LLq1Mdoz2ULz-eNB_i9K0_5gs35--hOB_vbd1zg</recordid><startdate>199807</startdate><enddate>199807</enddate><creator>George, Soshamma</creator><creator>Pulimood, Susanne</creator><creator>Korah, Ipeson</creator><general>Blackwell Publishing Ltd</general><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></search><sort><creationdate>199807</creationdate><title>Trichorhinophalangeal syndrome type I</title><author>George, Soshamma ; Pulimood, Susanne ; Korah, Ipeson</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3006-989a9a70f00ba632c263af39bc9254a2da9a693a228f0066afcd3dc70e5db2933</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1998</creationdate><topic>Adult</topic><topic>Alopecia - pathology</topic><topic>Brachyphalangeal dysostoses</topic><topic>Female</topic><topic>Finger Joint - abnormalities</topic><topic>Finger Joint - diagnostic imaging</topic><topic>Fingers - abnormalities</topic><topic>Humans</topic><topic>Nose - abnormalities</topic><topic>Radiography</topic><topic>Syndrome</topic><topic>Toe Joint - abnormalities</topic><topic>Toe Joint - diagnostic imaging</topic><topic>Toes - abnormalities</topic><topic>Trichorhinophalangeal syndrome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>George, Soshamma</creatorcontrib><creatorcontrib>Pulimood, Susanne</creatorcontrib><creatorcontrib>Korah, Ipeson</creatorcontrib><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><jtitle>Journal of the European Academy of Dermatology and Venereology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>George, Soshamma</au><au>Pulimood, Susanne</au><au>Korah, Ipeson</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Trichorhinophalangeal syndrome type I</atitle><jtitle>Journal of the European Academy of Dermatology and Venereology</jtitle><addtitle>J Eur Acad Dermatol Venereol</addtitle><date>1998-07</date><risdate>1998</risdate><volume>11</volume><issue>1</issue><spage>66</spage><epage>68</epage><pages>66-68</pages><issn>0926-9959</issn><eissn>1468-3083</eissn><abstract>A 32‐year‐old short statured woman with alopecia, typical facies, shortened angulated fingers and toes with Trichorhinophalangeal syndrome type I (TRPS I) is reported. The absence of exostosis and mental retardation rule out TRPS II. The absence of generalized shortness of all phalanges, metacarpals and metatarsals distinguish it from TRPS III. Possibly the various types of Trichorhinophalangeal syndrome are genetically identical but have a varied clinical spectrum.</abstract><cop>Oxford, UK</cop><pub>Blackwell Publishing Ltd</pub><pmid>9731970</pmid><doi>10.1111/j.1468-3083.1998.tb00957.x</doi><tpages>3</tpages></addata></record> |
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| identifier | ISSN: 0926-9959 |
| ispartof | Journal of the European Academy of Dermatology and Venereology, 1998-07, Vol.11 (1), p.66-68 |
| issn | 0926-9959 1468-3083 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_73895941 |
| source | MEDLINE; Wiley Online Library Journals Frontfile Complete; Alma/SFX Local Collection |
| subjects | Adult Alopecia - pathology Brachyphalangeal dysostoses Female Finger Joint - abnormalities Finger Joint - diagnostic imaging Fingers - abnormalities Humans Nose - abnormalities Radiography Syndrome Toe Joint - abnormalities Toe Joint - diagnostic imaging Toes - abnormalities Trichorhinophalangeal syndrome |
| title | Trichorhinophalangeal syndrome type I |
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