Hypotrichosis, lymphedema of the legs and acral telangiectasias - new syndrome?
Identifieur interne : 00A131 ( Main/Exploration ); précédent : 00A130; suivant : 00A132Hypotrichosis, lymphedema of the legs and acral telangiectasias - new syndrome?
Auteurs : Conrad Glade [Pays-Bas] ; Mauria A. M. Van Steensel [Pays-Bas] ; Peter M. Steijlen [Pays-Bas]Source :
- EJD. European journal of dermatology [ 1167-1122 ] ; 2001.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Enfant.
English descriptors
- KwdEn :
Abstract
We describe a girl of Turkish descent suffering from a peculiar combination of symptoms. The presenting complaint was bilateral lymphedema of the legs; additional symptoms include hypotrichosis, telangiectasias and angiomata limited to acral regions. We discuss the possibility that this girl suffers from Noonan/cardio-facio-cutaneous syndrome. We conclude that the combination of symptoms listed here probably represents a new syndrome for which we propose the name hypotrichosis-lymphedema-telangiectasia syndrome.
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream PascalFrancis, to step Corpus: 000824
- to stream PascalFrancis, to step Curation: 000136
- to stream PascalFrancis, to step Checkpoint: 000842
- to stream Main, to step Merge: 00A600
- to stream Main, to step Curation: 00A131
Le document en format XML
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M." last="Van Steensel">Mauria A. M. Van Steensel</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>University Medical Centre Nijmegen, Dept. of Dermatology 802, PO Box 9101</s1><s2>6500 HB Nijmegen</s2><s3>NLD</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ></inist:fA14><country>Pays-Bas</country><wicri:noRegion>6500 HB Nijmegen</wicri:noRegion></affiliation></author><author><name sortKey="Steijlen, Peter M" sort="Steijlen, Peter M" uniqKey="Steijlen P" first="Peter M." last="Steijlen">Peter M. Steijlen</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>University Medical Centre Nijmegen, Dept. of Dermatology 802, PO Box 9101</s1><s2>6500 HB Nijmegen</s2><s3>NLD</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ></inist:fA14><country>Pays-Bas</country><wicri:noRegion>6500 HB Nijmegen</wicri:noRegion></affiliation></author></analytic><series><title level="j" type="main">EJD. European journal of dermatology</title><title level="j" type="abbreviated">EJD, Eur. j. dermatol.</title><idno type="ISSN">1167-1122</idno><imprint><date when="2001">2001</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">EJD. European journal of dermatology</title><title level="j" type="abbreviated">EJD, Eur. j. dermatol.</title><idno type="ISSN">1167-1122</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Case study</term><term>Child</term><term>Hair</term><term>Hypotrichosis</term><term>Leg</term><term>Lymphedema</term><term>Skin</term><term>Telangiectasia</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Hypotrichose</term><term>Jambe</term><term>Lymphoedème</term><term>Télangiectasie</term><term>Peau</term><term>Etude cas</term><term>Enfant</term><term>Poil</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Enfant</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We describe a girl of Turkish descent suffering from a peculiar combination of symptoms. The presenting complaint was bilateral lymphedema of the legs; additional symptoms include hypotrichosis, telangiectasias and angiomata limited to acral regions. We discuss the possibility that this girl suffers from Noonan/cardio-facio-cutaneous syndrome. We conclude that the combination of symptoms listed here probably represents a new syndrome for which we propose the name hypotrichosis-lymphedema-telangiectasia syndrome.</div></front></TEI><affiliations><list><country><li>Pays-Bas</li></country></list><tree><country name="Pays-Bas"><noRegion><name sortKey="Glade, Conrad" sort="Glade, Conrad" uniqKey="Glade C" first="Conrad" last="Glade">Conrad Glade</name></noRegion><name sortKey="Steijlen, Peter M" sort="Steijlen, Peter M" uniqKey="Steijlen P" first="Peter M." last="Steijlen">Peter M. Steijlen</name><name sortKey="Van Steensel, Mauria A M" sort="Van Steensel, Mauria A M" uniqKey="Van Steensel M" first="Mauria A. M." last="Van Steensel">Mauria A. M. 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