Two cases of Townes-Brocks syndrome with previously undescribed anomalies
Townes-Brocks syndrome is characterized by the association of anorectal, radial ray and outer ear malformations and deafness. We describe two patients affected with several typical clinical signs of Townes-Brocks syndrome in addition to growth and puberty delays and vertebral anomalies not previousl...
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Veröffentlicht in: | Clinical dysmorphology 1998-10, Vol.7 (4), p.295-298 |
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container_title | Clinical dysmorphology |
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creator | Marlin, S Toublanc, J E Petit, C |
description | Townes-Brocks syndrome is characterized by the association of anorectal, radial ray and outer ear malformations and deafness. We describe two patients affected with several typical clinical signs of Townes-Brocks syndrome in addition to growth and puberty delays and vertebral anomalies not previously reported. |
doi_str_mv | 10.1097/00019605-199810000-00011 |
format | Article |
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We describe two patients affected with several typical clinical signs of Townes-Brocks syndrome in addition to growth and puberty delays and vertebral anomalies not previously reported.</description><identifier>ISSN: 0962-8827</identifier><identifier>DOI: 10.1097/00019605-199810000-00011</identifier><identifier>PMID: 9823498</identifier><language>eng</language><publisher>England</publisher><subject>Abnormalities, Multiple - genetics ; Anus, Imperforate - genetics ; Cervical Vertebrae - abnormalities ; Child ; Ear, External - abnormalities ; Female ; Growth Disorders - genetics ; Hearing Disorders - genetics ; Humans ; Syndrome ; Thumb - abnormalities</subject><ispartof>Clinical dysmorphology, 1998-10, Vol.7 (4), p.295-298</ispartof><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c279t-76cc123d5f940c32705f5642b64d786201129f13f65ece305b7d3312c5daa1b43</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>315,782,786,27933,27934</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/9823498$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Marlin, S</creatorcontrib><creatorcontrib>Toublanc, J E</creatorcontrib><creatorcontrib>Petit, C</creatorcontrib><title>Two cases of Townes-Brocks syndrome with previously undescribed anomalies</title><title>Clinical dysmorphology</title><addtitle>Clin Dysmorphol</addtitle><description>Townes-Brocks syndrome is characterized by the association of anorectal, radial ray and outer ear malformations and deafness. We describe two patients affected with several typical clinical signs of Townes-Brocks syndrome in addition to growth and puberty delays and vertebral anomalies not previously reported.</description><subject>Abnormalities, Multiple - genetics</subject><subject>Anus, Imperforate - genetics</subject><subject>Cervical Vertebrae - abnormalities</subject><subject>Child</subject><subject>Ear, External - abnormalities</subject><subject>Female</subject><subject>Growth Disorders - genetics</subject><subject>Hearing Disorders - genetics</subject><subject>Humans</subject><subject>Syndrome</subject><subject>Thumb - abnormalities</subject><issn>0962-8827</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1998</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNo9kElOAzEQRb0AhRA4ApIvYPDQnpYQAYkUiU1Yt9weREO6HbkSWrk9mciqVF__lUoPIczoI6NWP1FKmVVUEmatYfuNkkPErtCYWsWJMVzfoFuA72PR6hEaWcNFZc0YzZdDxt5BBJwTXuahj0BeSvY_gGHXh5K7iId284XXJf62eQurHd72IYIvbRMDdn3u3KqNcIeuk1tBvD_PCfp8e11OZ2Tx8T6fPi-I59puiFbeMy6CTLaiXnBNZZKq4o2qgjaK7x_nNjGRlIw-CiobHYRg3MvgHGsqMUHmdNeXDFBiqtel7VzZ1YzWByH1v5D6IuQYsT36cELX26aL4QKebYg_WsldsA</recordid><startdate>19981001</startdate><enddate>19981001</enddate><creator>Marlin, S</creator><creator>Toublanc, J E</creator><creator>Petit, C</creator><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope></search><sort><creationdate>19981001</creationdate><title>Two cases of Townes-Brocks syndrome with previously undescribed anomalies</title><author>Marlin, S ; Toublanc, J E ; Petit, C</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c279t-76cc123d5f940c32705f5642b64d786201129f13f65ece305b7d3312c5daa1b43</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1998</creationdate><topic>Abnormalities, Multiple - genetics</topic><topic>Anus, Imperforate - genetics</topic><topic>Cervical Vertebrae - abnormalities</topic><topic>Child</topic><topic>Ear, External - abnormalities</topic><topic>Female</topic><topic>Growth Disorders - genetics</topic><topic>Hearing Disorders - genetics</topic><topic>Humans</topic><topic>Syndrome</topic><topic>Thumb - abnormalities</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Marlin, S</creatorcontrib><creatorcontrib>Toublanc, J E</creatorcontrib><creatorcontrib>Petit, C</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><jtitle>Clinical dysmorphology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Marlin, S</au><au>Toublanc, J E</au><au>Petit, C</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Two cases of Townes-Brocks syndrome with previously undescribed anomalies</atitle><jtitle>Clinical dysmorphology</jtitle><addtitle>Clin Dysmorphol</addtitle><date>1998-10-01</date><risdate>1998</risdate><volume>7</volume><issue>4</issue><spage>295</spage><epage>298</epage><pages>295-298</pages><issn>0962-8827</issn><abstract>Townes-Brocks syndrome is characterized by the association of anorectal, radial ray and outer ear malformations and deafness. We describe two patients affected with several typical clinical signs of Townes-Brocks syndrome in addition to growth and puberty delays and vertebral anomalies not previously reported.</abstract><cop>England</cop><pmid>9823498</pmid><doi>10.1097/00019605-199810000-00011</doi><tpages>4</tpages></addata></record> |
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language | eng |
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subjects | Abnormalities, Multiple - genetics Anus, Imperforate - genetics Cervical Vertebrae - abnormalities Child Ear, External - abnormalities Female Growth Disorders - genetics Hearing Disorders - genetics Humans Syndrome Thumb - abnormalities |
title | Two cases of Townes-Brocks syndrome with previously undescribed anomalies |
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