G27 The Lymphatic Phenotype in Turner Syndrome: An Evaluation of Patients Presenting to Three Specialist Primary Lymphoedema Clinics and Literature Review
Identifieur interne : 005923 ( Istex/Corpus ); précédent : 005922; suivant : 005924G27 The Lymphatic Phenotype in Turner Syndrome: An Evaluation of Patients Presenting to Three Specialist Primary Lymphoedema Clinics and Literature Review
Auteurs : G. Atton ; K. Gordon ; G. Brice ; V. Keeley ; K. Riches ; P. Mortimer ; S. MansourSource :
- Archives of Disease in Childhood [ 0003-9888 ] ; 2013-06.
Abstract
Aims This study aimed to analyse the medical records of a cohort of 19 Turner Syndrome patients attending three specialist primary lymphoedema clinics to elucidate the key features of the lymphatic phenotype of Turner Syndrome and provide vital insights into its diagnosis, progression and management. Lymphoedema of the hands, feet and cervical region is a common and key diagnostic indicator of Turner Syndrome, present in >60% of patients, though is poorly described in the literature. Methods The study sample of 19 female patients was obtained from specialist primary lymphoedema clinics at three major centres and located by identifying all patients with Turner Syndrome and lymphoedema from hospital databases. Patient and genetic notes were identified through the use of patient-specific numerical identifiers. These notes were thoroughly analysed and examined and any important information inserted into a spreadsheet pro forma. Results The majority of patients presented at birth with 4-limb lymphoedema which often resolved in early childhood but frequently recurred in later childhood. There was 1 case of systemic involvement (e.g. intestinal or pulmonary lymphangiectasia). The swelling was confined to the legs and hands with no facial or genital swelling. The most significant discovery from this research was a pattern observed from the lymphoscintigraphy results, which suggested that the lymphatic phenotype of Turner Syndrome may be due to lymphatic functional hypoplasia of lymphatic tracts. Conclusion Turner Syndrome frequently presents at birth with 4-limb lymphoedema which often resolves in early childhood but may recur at any age. The lymphoscintigraphy results suggested that the lymphatic phenotype in Turner Syndrome may be due to lymphatic functional hypoplasia, a new perspective which may highlight the importance of this test as a baseline assessment of lymphoedema in Turner Syndrome patients.
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DOI: 10.1136/archdischild-2013-304107.040
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Brice</name><affiliation><mods:affiliation>SW Thames Regional Genetics Unit, St George’s, University of London, London, UK</mods:affiliation></affiliation></author><author><name sortKey="Keeley, V" sort="Keeley, V" uniqKey="Keeley V" first="V" last="Keeley">V. Keeley</name><affiliation><mods:affiliation>Nightingale Macmillan Unit, Derby Hospitals NHS Foundation Trust, Derby, UK</mods:affiliation></affiliation></author><author><name sortKey="Riches, K" sort="Riches, K" uniqKey="Riches K" first="K" last="Riches">K. Riches</name><affiliation><mods:affiliation>Nightingale Macmillan Unit, Derby Hospitals NHS Foundation Trust, Derby, UK</mods:affiliation></affiliation></author><author><name sortKey="Mortimer, P" sort="Mortimer, P" uniqKey="Mortimer P" first="P" last="Mortimer">P. Mortimer</name><affiliation><mods:affiliation>Cardiac and Vascular Sciences (Dermatology), St George’s University of London, London, UK</mods:affiliation></affiliation></author><author><name sortKey="Mansour, S" sort="Mansour, S" uniqKey="Mansour S" first="S" last="Mansour">S. Mansour</name><affiliation><mods:affiliation>SW Thames Regional Genetics Unit, St George’s, University of London, London, UK</mods:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:BD9A3C3F797EACE57C6E1F03EA0CE4EB23186672</idno><date when="2013" year="2013">2013</date><idno type="doi">10.1136/archdischild-2013-304107.040</idno><idno type="url">https://api.istex.fr/document/BD9A3C3F797EACE57C6E1F03EA0CE4EB23186672/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">005923</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">005923</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">G27 The Lymphatic Phenotype in Turner Syndrome: An Evaluation of Patients Presenting to Three Specialist Primary Lymphoedema Clinics and Literature Review</title><author><name sortKey="Atton, G" sort="Atton, G" uniqKey="Atton G" first="G" last="Atton">G. Atton</name><affiliation><mods:affiliation>SW Thames Regional Genetics Unit, St George’s, University of London, London, UK</mods:affiliation></affiliation></author><author><name sortKey="Gordon, K" sort="Gordon, K" uniqKey="Gordon K" first="K" last="Gordon">K. Gordon</name><affiliation><mods:affiliation>Department of Dermatology, St. George’s Hospital NHS Trust, London, UK</mods:affiliation></affiliation></author><author><name sortKey="Brice, G" sort="Brice, G" uniqKey="Brice G" first="G" last="Brice">G. Brice</name><affiliation><mods:affiliation>SW Thames Regional Genetics Unit, St George’s, University of London, London, UK</mods:affiliation></affiliation></author><author><name sortKey="Keeley, V" sort="Keeley, V" uniqKey="Keeley V" first="V" last="Keeley">V. Keeley</name><affiliation><mods:affiliation>Nightingale Macmillan Unit, Derby Hospitals NHS Foundation Trust, Derby, UK</mods:affiliation></affiliation></author><author><name sortKey="Riches, K" sort="Riches, K" uniqKey="Riches K" first="K" last="Riches">K. Riches</name><affiliation><mods:affiliation>Nightingale Macmillan Unit, Derby Hospitals NHS Foundation Trust, Derby, UK</mods:affiliation></affiliation></author><author><name sortKey="Mortimer, P" sort="Mortimer, P" uniqKey="Mortimer P" first="P" last="Mortimer">P. Mortimer</name><affiliation><mods:affiliation>Cardiac and Vascular Sciences (Dermatology), St George’s University of London, London, UK</mods:affiliation></affiliation></author><author><name sortKey="Mansour, S" sort="Mansour, S" uniqKey="Mansour S" first="S" last="Mansour">S. Mansour</name><affiliation><mods:affiliation>SW Thames Regional Genetics Unit, St George’s, University of London, London, UK</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Archives of Disease in Childhood</title><title level="j" type="abbrev">Arch Dis Child</title><idno type="ISSN">0003-9888</idno><idno type="eISSN">1468-2044</idno><imprint><publisher>BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health</publisher><date type="published" when="2013-06">2013-06</date><biblScope unit="volume">98</biblScope><biblScope unit="issue">Suppl 1</biblScope><biblScope unit="page" from="A17">A17</biblScope></imprint><idno type="ISSN">0003-9888</idno></series><idno type="istex">BD9A3C3F797EACE57C6E1F03EA0CE4EB23186672</idno><idno type="DOI">10.1136/archdischild-2013-304107.040</idno><idno type="href">archdischild-98-A17-2.pdf</idno><idno type="ArticleID">archdischild-2013-304107.040</idno><idno type="local">archdischild;98/Suppl_1/A17-b</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0003-9888</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract">Aims This study aimed to analyse the medical records of a cohort of 19 Turner Syndrome patients attending three specialist primary lymphoedema clinics to elucidate the key features of the lymphatic phenotype of Turner Syndrome and provide vital insights into its diagnosis, progression and management. Lymphoedema of the hands, feet and cervical region is a common and key diagnostic indicator of Turner Syndrome, present in >60% of patients, though is poorly described in the literature. Methods The study sample of 19 female patients was obtained from specialist primary lymphoedema clinics at three major centres and located by identifying all patients with Turner Syndrome and lymphoedema from hospital databases. Patient and genetic notes were identified through the use of patient-specific numerical identifiers. These notes were thoroughly analysed and examined and any important information inserted into a spreadsheet pro forma. Results The majority of patients presented at birth with 4-limb lymphoedema which often resolved in early childhood but frequently recurred in later childhood. There was 1 case of systemic involvement (e.g. intestinal or pulmonary lymphangiectasia). The swelling was confined to the legs and hands with no facial or genital swelling. The most significant discovery from this research was a pattern observed from the lymphoscintigraphy results, which suggested that the lymphatic phenotype of Turner Syndrome may be due to lymphatic functional hypoplasia of lymphatic tracts. Conclusion Turner Syndrome frequently presents at birth with 4-limb lymphoedema which often resolves in early childhood but may recur at any age. The lymphoscintigraphy results suggested that the lymphatic phenotype in Turner Syndrome may be due to lymphatic functional hypoplasia, a new perspective which may highlight the importance of this test as a baseline assessment of lymphoedema in Turner Syndrome patients.</div></front></TEI><istex><corpusName>bmj</corpusName><keywords><teeft><json:string>lymphoedema</json:string><json:string>mutation</json:string><json:string>lymphatic</json:string><json:string>malformation</json:string><json:string>dermatology</json:string><json:string>rasa1</json:string><json:string>turner syndrome</json:string><json:string>vgam</json:string><json:string>noonan</json:string><json:string>lymphatic phenotype</json:string><json:string>noonan syndrome</json:string><json:string>phenotype</json:string><json:string>syndrome</json:string><json:string>autosomal</json:string><json:string>ichthyosis</json:string><json:string>foundation trust</json:string><json:string>lymphoedema clinics</json:string><json:string>systemic involvement</json:string><json:string>chylous reflux</json:string><json:string>genetic basis</json:string><json:string>turner syndrome patients</json:string><json:string>early childhood</json:string><json:string>lymphoscintigraphy results</json:string><json:string>rasa1 mutations</json:string><json:string>skin syndrome</json:string></teeft></keywords><author><json:item><name>G Atton</name><affiliations><json:string>SW Thames Regional Genetics Unit, St George’s, University of London, London, UK</json:string></affiliations></json:item><json:item><name>K Gordon</name><affiliations><json:string>Department of Dermatology, St. George’s Hospital NHS Trust, London, UK</json:string></affiliations></json:item><json:item><name>G Brice</name><affiliations><json:string>SW Thames Regional Genetics Unit, St George’s, University of London, London, UK</json:string></affiliations></json:item><json:item><name>V Keeley</name><affiliations><json:string>Nightingale Macmillan Unit, Derby Hospitals NHS Foundation Trust, Derby, UK</json:string></affiliations></json:item><json:item><name>K Riches</name><affiliations><json:string>Nightingale Macmillan Unit, Derby Hospitals NHS Foundation Trust, Derby, UK</json:string></affiliations></json:item><json:item><name>P Mortimer</name><affiliations><json:string>Cardiac and Vascular Sciences (Dermatology), St George’s University of London, London, UK</json:string></affiliations></json:item><json:item><name>S Mansour</name><affiliations><json:string>SW Thames Regional Genetics Unit, St George’s, University of London, London, UK</json:string></affiliations></json:item></author><articleId><json:string>archdischild-2013-304107.040</json:string></articleId><language><json:string>eng</json:string></language><originalGenre><json:string>abstract</json:string></originalGenre><abstract>Aims This study aimed to analyse the medical records of a cohort of 19 Turner Syndrome patients attending three specialist primary lymphoedema clinics to elucidate the key features of the lymphatic phenotype of Turner Syndrome and provide vital insights into its diagnosis, progression and management. Lymphoedema of the hands, feet and cervical region is a common and key diagnostic indicator of Turner Syndrome, present in >60% of patients, though is poorly described in the literature. Methods The study sample of 19 female patients was obtained from specialist primary lymphoedema clinics at three major centres and located by identifying all patients with Turner Syndrome and lymphoedema from hospital databases. Patient and genetic notes were identified through the use of patient-specific numerical identifiers. These notes were thoroughly analysed and examined and any important information inserted into a spreadsheet pro forma. Results The majority of patients presented at birth with 4-limb lymphoedema which often resolved in early childhood but frequently recurred in later childhood. There was 1 case of systemic involvement (e.g. intestinal or pulmonary lymphangiectasia). The swelling was confined to the legs and hands with no facial or genital swelling. The most significant discovery from this research was a pattern observed from the lymphoscintigraphy results, which suggested that the lymphatic phenotype of Turner Syndrome may be due to lymphatic functional hypoplasia of lymphatic tracts. Conclusion Turner Syndrome frequently presents at birth with 4-limb lymphoedema which often resolves in early childhood but may recur at any age. The lymphoscintigraphy results suggested that the lymphatic phenotype in Turner Syndrome may be due to lymphatic functional hypoplasia, a new perspective which may highlight the importance of this test as a baseline assessment of lymphoedema in Turner Syndrome patients.</abstract><qualityIndicators><score>4.943</score><pdfVersion>1.5</pdfVersion><pdfPageSize>595.276 x 793.701 pts</pdfPageSize><refBibsNative>false</refBibsNative><keywordCount>0</keywordCount><abstractCharCount>1929</abstractCharCount><pdfWordCount>943</pdfWordCount><pdfCharCount>6328</pdfCharCount><pdfPageCount>1</pdfPageCount><abstractWordCount>283</abstractWordCount></qualityIndicators><title>G27 The Lymphatic Phenotype in Turner Syndrome: An Evaluation of Patients Presenting to Three Specialist Primary Lymphoedema Clinics and Literature Review</title><genre><json:string>abstract</json:string></genre><host><title>Archives of Disease in Childhood</title><language><json:string>unknown</json:string></language><issn><json:string>0003-9888</json:string></issn><eissn><json:string>1468-2044</json:string></eissn><publisherId><json:string>archdischild</json:string></publisherId><volume>98</volume><issue>Suppl 1</issue><pages><first>A17</first></pages><genre><json:string>journal</json:string></genre></host><categories><wos><json:string>science</json:string><json:string>pediatrics</json:string></wos><scienceMetrix><json:string>health sciences</json:string><json:string>clinical medicine</json:string><json:string>pediatrics</json:string></scienceMetrix><inist><json:string>sciences appliquees, technologies et medecines</json:string><json:string>sciences biologiques et medicales</json:string><json:string>sciences medicales</json:string></inist></categories><publicationDate>2013</publicationDate><copyrightDate>2013</copyrightDate><doi><json:string>10.1136/archdischild-2013-304107.040</json:string></doi><id>BD9A3C3F797EACE57C6E1F03EA0CE4EB23186672</id><score>1</score><fulltext><json:item><extension>pdf</extension><original>true</original><mimetype>application/pdf</mimetype><uri>https://api.istex.fr/document/BD9A3C3F797EACE57C6E1F03EA0CE4EB23186672/fulltext/pdf</uri></json:item><json:item><extension>zip</extension><original>false</original><mimetype>application/zip</mimetype><uri>https://api.istex.fr/document/BD9A3C3F797EACE57C6E1F03EA0CE4EB23186672/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/BD9A3C3F797EACE57C6E1F03EA0CE4EB23186672/fulltext/tei"><teiHeader><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">G27 The Lymphatic Phenotype in Turner Syndrome: An Evaluation of Patients Presenting to Three Specialist Primary Lymphoedema Clinics and Literature Review</title><respStmt><resp>Références bibliographiques récupérées via GROBID</resp><name resp="ISTEX-API">ISTEX-API (INIST-CNRS)</name></respStmt></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health</publisher><availability><p>© 2013, Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions</p></availability><date>2013</date></publicationStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">G27 The Lymphatic Phenotype in Turner Syndrome: An Evaluation of Patients Presenting to Three Specialist Primary Lymphoedema Clinics and Literature Review</title><author xml:id="author-1"><persName><forename type="first">G</forename><surname>Atton</surname></persName><affiliation>SW Thames Regional Genetics Unit, St George’s, University of London, London, UK</affiliation></author><author xml:id="author-2"><persName><forename type="first">K</forename><surname>Gordon</surname></persName><affiliation>Department of Dermatology, St. George’s Hospital NHS Trust, London, UK</affiliation></author><author xml:id="author-3"><persName><forename type="first">G</forename><surname>Brice</surname></persName><affiliation>SW Thames Regional Genetics Unit, St George’s, University of London, London, UK</affiliation></author><author xml:id="author-4"><persName><forename type="first">V</forename><surname>Keeley</surname></persName><affiliation>Nightingale Macmillan Unit, Derby Hospitals NHS Foundation Trust, Derby, UK</affiliation></author><author xml:id="author-5"><persName><forename type="first">K</forename><surname>Riches</surname></persName><affiliation>Nightingale Macmillan Unit, Derby Hospitals NHS Foundation Trust, Derby, UK</affiliation></author><author xml:id="author-6"><persName><forename type="first">P</forename><surname>Mortimer</surname></persName><affiliation>Cardiac and Vascular Sciences (Dermatology), St George’s University of London, London, UK</affiliation></author><author xml:id="author-7"><persName><forename type="first">S</forename><surname>Mansour</surname></persName><affiliation>SW Thames Regional Genetics Unit, St George’s, University of London, London, UK</affiliation></author></analytic><monogr><title level="j">Archives of Disease in Childhood</title><title level="j" type="abbrev">Arch Dis Child</title><idno type="pISSN">0003-9888</idno><idno type="eISSN">1468-2044</idno><imprint><publisher>BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health</publisher><date type="published" when="2013-06"></date><biblScope unit="volume">98</biblScope><biblScope unit="issue">Suppl 1</biblScope><biblScope unit="page" from="A17">A17</biblScope></imprint></monogr><idno type="istex">BD9A3C3F797EACE57C6E1F03EA0CE4EB23186672</idno><idno type="DOI">10.1136/archdischild-2013-304107.040</idno><idno type="href">archdischild-98-A17-2.pdf</idno><idno type="ArticleID">archdischild-2013-304107.040</idno><idno type="local">archdischild;98/Suppl_1/A17-b</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2013</date></creation><langUsage><language ident="en">en</language></langUsage><abstract><p>Aims This study aimed to analyse the medical records of a cohort of 19 Turner Syndrome patients attending three specialist primary lymphoedema clinics to elucidate the key features of the lymphatic phenotype of Turner Syndrome and provide vital insights into its diagnosis, progression and management. Lymphoedema of the hands, feet and cervical region is a common and key diagnostic indicator of Turner Syndrome, present in >60% of patients, though is poorly described in the literature. Methods The study sample of 19 female patients was obtained from specialist primary lymphoedema clinics at three major centres and located by identifying all patients with Turner Syndrome and lymphoedema from hospital databases. Patient and genetic notes were identified through the use of patient-specific numerical identifiers. These notes were thoroughly analysed and examined and any important information inserted into a spreadsheet pro forma. Results The majority of patients presented at birth with 4-limb lymphoedema which often resolved in early childhood but frequently recurred in later childhood. There was 1 case of systemic involvement (e.g. intestinal or pulmonary lymphangiectasia). The swelling was confined to the legs and hands with no facial or genital swelling. The most significant discovery from this research was a pattern observed from the lymphoscintigraphy results, which suggested that the lymphatic phenotype of Turner Syndrome may be due to lymphatic functional hypoplasia of lymphatic tracts. Conclusion Turner Syndrome frequently presents at birth with 4-limb lymphoedema which often resolves in early childhood but may recur at any age. The lymphoscintigraphy results suggested that the lymphatic phenotype in Turner Syndrome may be due to lymphatic functional hypoplasia, a new perspective which may highlight the importance of this test as a baseline assessment of lymphoedema in Turner Syndrome patients.</p></abstract></profileDesc><revisionDesc><change when="2013-06">Published</change><change xml:id="refBibs-istex" who="#ISTEX-API" when="2017-01-19">References added</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><extension>txt</extension><original>false</original><mimetype>text/plain</mimetype><uri>https://api.istex.fr/document/BD9A3C3F797EACE57C6E1F03EA0CE4EB23186672/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="corpus bmj" wicri:toSee="no header"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="no"</istex:xmlDeclaration><istex:docType PUBLIC="-//NLM//DTD Journal Archiving and Interchange DTD v2.3 20070202//EN" URI="archivearticle.dtd" 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pub-id-type="other">archdischild;archdischild-2013-304107.040</article-id><article-id pub-id-type="other">A17.2</article-id><article-id pub-id-type="other">archdischild-2013-304107.040</article-id><article-categories><subj-group subj-group-type="heading"><subject>Clinical Genetics Group/British Society of Paediatric Dermatology</subject></subj-group></article-categories><title-group><article-title>G27 The Lymphatic Phenotype in Turner Syndrome: An Evaluation of Patients Presenting to Three Specialist Primary Lymphoedema Clinics and Literature Review</article-title></title-group><contrib-group><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>Atton</surname><given-names>G</given-names></name><xref ref-type="aff" rid="AF0001"><sup>1</sup></xref></contrib><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>Gordon</surname><given-names>K</given-names></name><xref ref-type="aff" rid="AF0003"><sup>3</sup></xref></contrib><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>Brice</surname><given-names>G</given-names></name><xref ref-type="aff" rid="AF0001"><sup>1</sup></xref></contrib><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>Keeley</surname><given-names>V</given-names></name><xref ref-type="aff" rid="AF0002"><sup>2</sup></xref></contrib><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>Riches</surname><given-names>K</given-names></name><xref ref-type="aff" rid="AF0002"><sup>2</sup></xref></contrib><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>Mortimer</surname><given-names>P</given-names></name><xref ref-type="aff" rid="AF0004"><sup>4</sup></xref></contrib><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>Mansour</surname><given-names>S</given-names></name><xref ref-type="aff" rid="AF0001"><sup>1</sup></xref></contrib></contrib-group><aff id="AF0001"><sup>1</sup>SW Thames Regional Genetics Unit, St George’s, University of London, London, UK</aff><aff id="AF0002"><sup>2</sup>Nightingale Macmillan Unit, Derby Hospitals NHS Foundation Trust, Derby, UK</aff><aff id="AF0003"><sup>3</sup>Department of Dermatology, St. George’s Hospital NHS Trust, London, UK</aff><aff id="AF0004"><sup>4</sup>Cardiac and Vascular Sciences (Dermatology), St George’s University of London, London, UK</aff><pub-date pub-type="ppub"><month>06</month><year>2013</year></pub-date><volume>98</volume><volume-id pub-id-type="other">98</volume-id><volume-id pub-id-type="other">98</volume-id><issue>Suppl 1</issue><issue-id pub-id-type="other">archdischild;98/Suppl_1</issue-id><issue-id pub-id-type="other" content-type="supplement">Suppl_1</issue-id><issue-id pub-id-type="other">98/Suppl_1</issue-id><issue-title>Royal College of Paediatrics and Child Health, Abstracts of the Annual Conference jointly held with 6th Europaediatrics, 5–8 June 2013, Scottish Exhibition and Conference Centre, Glasgow</issue-title><fpage seq="2">A17</fpage><permissions><copyright-statement>© 2013, Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions</copyright-statement><copyright-year>2013</copyright-year></permissions><self-uri content-type="pdf" xlink:role="full-text" xlink:href="archdischild-98-A17-2.pdf"></self-uri><abstract><sec><title>Aims</title><p>This study aimed to analyse the medical records of a cohort of 19 Turner Syndrome patients attending three specialist primary lymphoedema clinics to elucidate the key features of the lymphatic phenotype of Turner Syndrome and provide vital insights into its diagnosis, progression and management. Lymphoedema of the hands, feet and cervical region is a common and key diagnostic indicator of Turner Syndrome, present in >60% of patients, though is poorly described in the literature.</p></sec><sec><title>Methods</title><p>The study sample of 19 female patients was obtained from specialist primary lymphoedema clinics at three major centres and located by identifying all patients with Turner Syndrome and lymphoedema from hospital databases. Patient and genetic notes were identified through the use of patient-specific numerical identifiers. These notes were thoroughly analysed and examined and any important information inserted into a spreadsheet pro forma.</p></sec><sec><title>Results</title><p>The majority of patients presented at birth with 4-limb lymphoedema which often resolved in early childhood but frequently recurred in later childhood. There was 1 case of systemic involvement (e.g. intestinal or pulmonary lymphangiectasia). The swelling was confined to the legs and hands with no facial or genital swelling. The most significant discovery from this research was a pattern observed from the lymphoscintigraphy results, which suggested that the lymphatic phenotype of Turner Syndrome may be due to lymphatic functional hypoplasia of lymphatic tracts.</p></sec><sec><title>Conclusion</title><p>Turner Syndrome frequently presents at birth with 4-limb lymphoedema which often resolves in early childhood but may recur at any age. The lymphoscintigraphy results suggested that the lymphatic phenotype in Turner Syndrome may be due to lymphatic functional hypoplasia, a new perspective which may highlight the importance of this test as a baseline assessment of lymphoedema in Turner Syndrome patients.</p></sec></abstract></article-meta></front></article></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>G27 The Lymphatic Phenotype in Turner Syndrome: An Evaluation of Patients Presenting to Three Specialist Primary Lymphoedema Clinics and Literature Review</title></titleInfo><titleInfo type="alternative" lang="en" contentType="CDATA"><title>G27 The Lymphatic Phenotype in Turner Syndrome: An Evaluation of Patients Presenting to Three Specialist Primary Lymphoedema Clinics and Literature Review</title></titleInfo><name type="personal"><namePart type="given">G</namePart><namePart type="family">Atton</namePart><affiliation>SW Thames Regional Genetics Unit, St George’s, University of London, London, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">K</namePart><namePart type="family">Gordon</namePart><affiliation>Department of Dermatology, St. George’s Hospital NHS Trust, London, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">G</namePart><namePart type="family">Brice</namePart><affiliation>SW Thames Regional Genetics Unit, St George’s, University of London, London, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">V</namePart><namePart type="family">Keeley</namePart><affiliation>Nightingale Macmillan Unit, Derby Hospitals NHS Foundation Trust, Derby, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">K</namePart><namePart type="family">Riches</namePart><affiliation>Nightingale Macmillan Unit, Derby Hospitals NHS Foundation Trust, Derby, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">P</namePart><namePart type="family">Mortimer</namePart><affiliation>Cardiac and Vascular Sciences (Dermatology), St George’s University of London, London, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">S</namePart><namePart type="family">Mansour</namePart><affiliation>SW Thames Regional Genetics Unit, St George’s, University of London, London, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="abstract" displayLabel="abstract"></genre><originInfo><publisher>BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health</publisher><dateIssued encoding="w3cdtf">2013-06</dateIssued><copyrightDate encoding="w3cdtf">2013</copyrightDate></originInfo><language><languageTerm type="code" authority="iso639-2b">eng</languageTerm><languageTerm type="code" authority="rfc3066">en</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType></physicalDescription><abstract>Aims This study aimed to analyse the medical records of a cohort of 19 Turner Syndrome patients attending three specialist primary lymphoedema clinics to elucidate the key features of the lymphatic phenotype of Turner Syndrome and provide vital insights into its diagnosis, progression and management. Lymphoedema of the hands, feet and cervical region is a common and key diagnostic indicator of Turner Syndrome, present in >60% of patients, though is poorly described in the literature. Methods The study sample of 19 female patients was obtained from specialist primary lymphoedema clinics at three major centres and located by identifying all patients with Turner Syndrome and lymphoedema from hospital databases. Patient and genetic notes were identified through the use of patient-specific numerical identifiers. These notes were thoroughly analysed and examined and any important information inserted into a spreadsheet pro forma. Results The majority of patients presented at birth with 4-limb lymphoedema which often resolved in early childhood but frequently recurred in later childhood. There was 1 case of systemic involvement (e.g. intestinal or pulmonary lymphangiectasia). The swelling was confined to the legs and hands with no facial or genital swelling. The most significant discovery from this research was a pattern observed from the lymphoscintigraphy results, which suggested that the lymphatic phenotype of Turner Syndrome may be due to lymphatic functional hypoplasia of lymphatic tracts. Conclusion Turner Syndrome frequently presents at birth with 4-limb lymphoedema which often resolves in early childhood but may recur at any age. The lymphoscintigraphy results suggested that the lymphatic phenotype in Turner Syndrome may be due to lymphatic functional hypoplasia, a new perspective which may highlight the importance of this test as a baseline assessment of lymphoedema in Turner Syndrome patients.</abstract><relatedItem type="host"><titleInfo><title>Archives of Disease in Childhood</title></titleInfo><titleInfo type="abbreviated"><title>Arch Dis Child</title></titleInfo><genre type="journal">journal</genre><identifier type="ISSN">0003-9888</identifier><identifier type="eISSN">1468-2044</identifier><identifier type="PublisherID">archdischild</identifier><identifier type="PublisherID-hwp">archdischild</identifier><identifier type="PublisherID-nlm-ta">Arch Dis Child</identifier><part><date>2013</date><detail type="title"><title>Royal College of Paediatrics and Child Health, Abstracts of the Annual Conference jointly held with 6th Europaediatrics, 5–8 June 2013, Scottish Exhibition and Conference Centre, Glasgow</title></detail><detail type="volume"><caption>vol.</caption><number>98</number></detail><detail type="issue"><caption>no.</caption><number>Suppl 1</number></detail><extent unit="pages"><start>A17</start></extent></part></relatedItem><identifier type="istex">BD9A3C3F797EACE57C6E1F03EA0CE4EB23186672</identifier><identifier type="DOI">10.1136/archdischild-2013-304107.040</identifier><identifier type="href">archdischild-98-A17-2.pdf</identifier><identifier type="ArticleID">archdischild-2013-304107.040</identifier><identifier type="local">archdischild;98/Suppl_1/A17-b</identifier><accessCondition type="use and reproduction" contentType="copyright">© 2013, Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions</accessCondition><recordInfo><recordContentSource>BMJ</recordContentSource></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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