Kabuki syndrome ? Report of six cases and review of the literature with emphasis on ocular features

Six cases of Kabuki syndrome (KS) with ocular anomalies are reported and the variety of ocular features reported in the literature for this syndrome is described. Routine ocular examinations are recommended for every patient with KS because of the high proportion of ocular anomalies found in these p...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Ophthalmic genetics 2000-03, Vol.21 (1), p.51-61
Hauptverfasser: Kluijt, I., van Dorp, D.B., Kwee, M.L., Toutain, A., Keppler-Noreuil, K., Warburg, M., Bitoun, P.
Format: Artikel
Sprache:eng
Online-Zugang:Volltext
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
container_end_page 61
container_issue 1
container_start_page 51
container_title Ophthalmic genetics
container_volume 21
creator Kluijt, I.
van Dorp, D.B.
Kwee, M.L.
Toutain, A.
Keppler-Noreuil, K.
Warburg, M.
Bitoun, P.
description Six cases of Kabuki syndrome (KS) with ocular anomalies are reported and the variety of ocular features reported in the literature for this syndrome is described. Routine ocular examinations are recommended for every patient with KS because of the high proportion of ocular anomalies found in these patients, the presence of which can hamper development if not adequately addressed.
doi_str_mv 10.1076/1381-6810(200003)21:1;1-I;FT051
format Article
fullrecord <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_20930148</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>20930148</sourcerecordid><originalsourceid>FETCH-LOGICAL-c217t-8be142ae78af13aff93f3351d9232c5cee078e5b7b9b1f297743c187665ddc0f3</originalsourceid><addsrcrecordid>eNo1kE1PwzAMhisEEmPwH3Li41CIk7Zp2WFCE4OJSUhonKM0dbRAv0haxv496wb2wa_sRz48QXAF9BaoSO6ApxAmKdBrRnfFbxjcwwTCxWS-ojEcBSMQURTGNIuOd_mfPg3OvP-glDGAeBToF5X3n5b4bV24pkIyJW_YNq4jjSHe_hCtPHqi6oI4_La4GfbdGklpO3Sq6x2Sje3WBKt2rbz1pKlJo_tSOWJwf_fnwYlRpceLvzkO3uePq9lzuHx9WswelqFmILowzREiplCkygBXxmTccB5DkTHOdKwRqUgxzkWe5WBYJkTENaQiSeKi0NTwcXB5-Nu65qtH38nKeo1lqWpsei8ZzTiFKN2B0wOoXeO9QyNbZyvlthKoHOTKQZccdMmDXMlADr2Qe7n8FyCHb5E</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>20930148</pqid></control><display><type>article</type><title>Kabuki syndrome ? Report of six cases and review of the literature with emphasis on ocular features</title><source>Taylor &amp; Francis Medical Library - CRKN</source><source>Taylor &amp; Francis Journals Complete</source><creator>Kluijt, I. ; van Dorp, D.B. ; Kwee, M.L. ; Toutain, A. ; Keppler-Noreuil, K. ; Warburg, M. ; Bitoun, P.</creator><creatorcontrib>Kluijt, I. ; van Dorp, D.B. ; Kwee, M.L. ; Toutain, A. ; Keppler-Noreuil, K. ; Warburg, M. ; Bitoun, P.</creatorcontrib><description>Six cases of Kabuki syndrome (KS) with ocular anomalies are reported and the variety of ocular features reported in the literature for this syndrome is described. Routine ocular examinations are recommended for every patient with KS because of the high proportion of ocular anomalies found in these patients, the presence of which can hamper development if not adequately addressed.</description><identifier>ISSN: 1381-6810</identifier><identifier>EISSN: 1744-5094</identifier><identifier>DOI: 10.1076/1381-6810(200003)21:1;1-I;FT051</identifier><language>eng</language><ispartof>Ophthalmic genetics, 2000-03, Vol.21 (1), p.51-61</ispartof><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c217t-8be142ae78af13aff93f3351d9232c5cee078e5b7b9b1f297743c187665ddc0f3</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids></links><search><creatorcontrib>Kluijt, I.</creatorcontrib><creatorcontrib>van Dorp, D.B.</creatorcontrib><creatorcontrib>Kwee, M.L.</creatorcontrib><creatorcontrib>Toutain, A.</creatorcontrib><creatorcontrib>Keppler-Noreuil, K.</creatorcontrib><creatorcontrib>Warburg, M.</creatorcontrib><creatorcontrib>Bitoun, P.</creatorcontrib><title>Kabuki syndrome ? Report of six cases and review of the literature with emphasis on ocular features</title><title>Ophthalmic genetics</title><description>Six cases of Kabuki syndrome (KS) with ocular anomalies are reported and the variety of ocular features reported in the literature for this syndrome is described. Routine ocular examinations are recommended for every patient with KS because of the high proportion of ocular anomalies found in these patients, the presence of which can hamper development if not adequately addressed.</description><issn>1381-6810</issn><issn>1744-5094</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2000</creationdate><recordtype>article</recordtype><recordid>eNo1kE1PwzAMhisEEmPwH3Li41CIk7Zp2WFCE4OJSUhonKM0dbRAv0haxv496wb2wa_sRz48QXAF9BaoSO6ApxAmKdBrRnfFbxjcwwTCxWS-ojEcBSMQURTGNIuOd_mfPg3OvP-glDGAeBToF5X3n5b4bV24pkIyJW_YNq4jjSHe_hCtPHqi6oI4_La4GfbdGklpO3Sq6x2Sje3WBKt2rbz1pKlJo_tSOWJwf_fnwYlRpceLvzkO3uePq9lzuHx9WswelqFmILowzREiplCkygBXxmTccB5DkTHOdKwRqUgxzkWe5WBYJkTENaQiSeKi0NTwcXB5-Nu65qtH38nKeo1lqWpsei8ZzTiFKN2B0wOoXeO9QyNbZyvlthKoHOTKQZccdMmDXMlADr2Qe7n8FyCHb5E</recordid><startdate>20000301</startdate><enddate>20000301</enddate><creator>Kluijt, I.</creator><creator>van Dorp, D.B.</creator><creator>Kwee, M.L.</creator><creator>Toutain, A.</creator><creator>Keppler-Noreuil, K.</creator><creator>Warburg, M.</creator><creator>Bitoun, P.</creator><scope>AAYXX</scope><scope>CITATION</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope></search><sort><creationdate>20000301</creationdate><title>Kabuki syndrome ? Report of six cases and review of the literature with emphasis on ocular features</title><author>Kluijt, I. ; van Dorp, D.B. ; Kwee, M.L. ; Toutain, A. ; Keppler-Noreuil, K. ; Warburg, M. ; Bitoun, P.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c217t-8be142ae78af13aff93f3351d9232c5cee078e5b7b9b1f297743c187665ddc0f3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2000</creationdate><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Kluijt, I.</creatorcontrib><creatorcontrib>van Dorp, D.B.</creatorcontrib><creatorcontrib>Kwee, M.L.</creatorcontrib><creatorcontrib>Toutain, A.</creatorcontrib><creatorcontrib>Keppler-Noreuil, K.</creatorcontrib><creatorcontrib>Warburg, M.</creatorcontrib><creatorcontrib>Bitoun, P.</creatorcontrib><collection>CrossRef</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><jtitle>Ophthalmic genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Kluijt, I.</au><au>van Dorp, D.B.</au><au>Kwee, M.L.</au><au>Toutain, A.</au><au>Keppler-Noreuil, K.</au><au>Warburg, M.</au><au>Bitoun, P.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Kabuki syndrome ? Report of six cases and review of the literature with emphasis on ocular features</atitle><jtitle>Ophthalmic genetics</jtitle><date>2000-03-01</date><risdate>2000</risdate><volume>21</volume><issue>1</issue><spage>51</spage><epage>61</epage><pages>51-61</pages><issn>1381-6810</issn><eissn>1744-5094</eissn><abstract>Six cases of Kabuki syndrome (KS) with ocular anomalies are reported and the variety of ocular features reported in the literature for this syndrome is described. Routine ocular examinations are recommended for every patient with KS because of the high proportion of ocular anomalies found in these patients, the presence of which can hamper development if not adequately addressed.</abstract><doi>10.1076/1381-6810(200003)21:1;1-I;FT051</doi><tpages>11</tpages></addata></record>
fulltext fulltext
identifier ISSN: 1381-6810
ispartof Ophthalmic genetics, 2000-03, Vol.21 (1), p.51-61
issn 1381-6810
1744-5094
language eng
recordid cdi_proquest_miscellaneous_20930148
source Taylor & Francis Medical Library - CRKN; Taylor & Francis Journals Complete
title Kabuki syndrome ? Report of six cases and review of the literature with emphasis on ocular features
url https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-06T15%3A11%3A04IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Kabuki%20syndrome%20?%20Report%20of%20six%20cases%20and%20review%20of%20the%20literature%20with%20emphasis%20on%20ocular%20features&rft.jtitle=Ophthalmic%20genetics&rft.au=Kluijt,%20I.&rft.date=2000-03-01&rft.volume=21&rft.issue=1&rft.spage=51&rft.epage=61&rft.pages=51-61&rft.issn=1381-6810&rft.eissn=1744-5094&rft_id=info:doi/10.1076/1381-6810(200003)21:1;1-I;FT051&rft_dat=%3Cproquest_cross%3E20930148%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=20930148&rft_id=info:pmid/&rfr_iscdi=true