Aortic regurgitation and pigmentation - unusual features of Noonan syndrome.
Identifieur interne : 007262 ( PubMed/Curation ); précédent : 007261; suivant : 007263Aortic regurgitation and pigmentation - unusual features of Noonan syndrome.
Auteurs : V S Bamrah ; K. Ajlouni ; W H Squires ; C V Hughes ; P S Rosenfeld ; F E TristaniSource :
- The American journal of the medical sciences [ 0002-9629 ]
Descripteurs français
- KwdFr :
- MESH :
English descriptors
- KwdEn :
- MESH :
- chemical , blood : Testosterone.
- complications : Aortic Valve Insufficiency, Cardiomyopathies, Lymphedema, Pigmentation Disorders, Turner Syndrome.
- Adult, Cardiac Catheterization, Humans, Male.
Abstract
A patient with typical features of Noonan's syndrome showed aortic regurgitation and widespread diffuse hyperpigmentation, features not previously associated with this syndrome. Detailed endocrine and dermatological studies failed to delineate the cause of hyperpigmentation. In addition to mild aortic regurgitation, cardiac catheterization revealed mild left ventricular dysfunction, probably due to primary myocardial disease. Other interesting findings included lymphedema and sexual infantilism despite normal testosterone levels.
PubMed: 1266891
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Ajlouni</name></author><author><name sortKey="Squires, W H" sort="Squires, W H" uniqKey="Squires W" first="W H" last="Squires">W H Squires</name></author><author><name sortKey="Hughes, C V" sort="Hughes, C V" uniqKey="Hughes C" first="C V" last="Hughes">C V Hughes</name></author><author><name sortKey="Rosenfeld, P S" sort="Rosenfeld, P S" uniqKey="Rosenfeld P" first="P S" last="Rosenfeld">P S Rosenfeld</name></author><author><name sortKey="Tristani, F E" sort="Tristani, F E" uniqKey="Tristani F" first="F E" last="Tristani">F E Tristani</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="????"><PubDate><MedlineDate>1976 Mar-Apr</MedlineDate></PubDate></date><idno type="RBID">pubmed:1266891</idno><idno type="pmid">1266891</idno><idno type="wicri:Area/PubMed/Corpus">007262</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">007262</idno><idno type="wicri:Area/PubMed/Curation">007262</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">007262</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Aortic regurgitation and pigmentation - unusual features of Noonan syndrome.</title><author><name sortKey="Bamrah, V S" sort="Bamrah, V S" uniqKey="Bamrah V" first="V S" last="Bamrah">V S Bamrah</name></author><author><name sortKey="Ajlouni, K" sort="Ajlouni, K" uniqKey="Ajlouni K" first="K" last="Ajlouni">K. Ajlouni</name></author><author><name sortKey="Squires, W H" sort="Squires, W H" uniqKey="Squires W" first="W H" last="Squires">W H Squires</name></author><author><name sortKey="Hughes, C V" sort="Hughes, C V" uniqKey="Hughes C" first="C V" last="Hughes">C V Hughes</name></author><author><name sortKey="Rosenfeld, P S" sort="Rosenfeld, P S" uniqKey="Rosenfeld P" first="P S" last="Rosenfeld">P S Rosenfeld</name></author><author><name sortKey="Tristani, F E" sort="Tristani, F E" uniqKey="Tristani F" first="F E" last="Tristani">F E Tristani</name></author></analytic><series><title level="j">The American journal of the medical sciences</title><idno type="ISSN">0002-9629</idno></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Aortic Valve Insufficiency (complications)</term><term>Cardiac Catheterization</term><term>Cardiomyopathies (complications)</term><term>Humans</term><term>Lymphedema (complications)</term><term>Male</term><term>Pigmentation Disorders (complications)</term><term>Testosterone (blood)</term><term>Turner Syndrome (complications)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adulte</term><term>Cardiomyopathies ()</term><term>Cathétérisme cardiaque</term><term>Humains</term><term>Insuffisance aortique ()</term><term>Lymphoedème ()</term><term>Mâle</term><term>Syndrome de Turner ()</term><term>Testostérone (sang)</term><term>Troubles de la pigmentation ()</term></keywords><keywords scheme="MESH" type="chemical" qualifier="blood" xml:lang="en"><term>Testosterone</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Aortic Valve Insufficiency</term><term>Cardiomyopathies</term><term>Lymphedema</term><term>Pigmentation Disorders</term><term>Turner Syndrome</term></keywords><keywords scheme="MESH" qualifier="sang" xml:lang="fr"><term>Testostérone</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Cardiac Catheterization</term><term>Humans</term><term>Male</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adulte</term><term>Cardiomyopathies</term><term>Cathétérisme cardiaque</term><term>Humains</term><term>Insuffisance aortique</term><term>Lymphoedème</term><term>Mâle</term><term>Syndrome de Turner</term><term>Troubles de la pigmentation</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">A patient with typical features of Noonan's syndrome showed aortic regurgitation and widespread diffuse hyperpigmentation, features not previously associated with this syndrome. Detailed endocrine and dermatological studies failed to delineate the cause of hyperpigmentation. In addition to mild aortic regurgitation, cardiac catheterization revealed mild left ventricular dysfunction, probably due to primary myocardial disease. Other interesting findings included lymphedema and sexual infantilism despite normal testosterone levels.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">1266891</PMID><DateCreated><Year>1976</Year><Month>07</Month><Day>06</Day></DateCreated><DateCompleted><Year>1976</Year><Month>07</Month><Day>06</Day></DateCompleted><DateRevised><Year>2013</Year><Month>11</Month><Day>21</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0002-9629</ISSN><JournalIssue CitedMedium="Print"><Volume>271</Volume><Issue>2</Issue><PubDate><MedlineDate>1976 Mar-Apr</MedlineDate></PubDate></JournalIssue><Title>The American journal of the medical sciences</Title><ISOAbbreviation>Am. J. Med. Sci.</ISOAbbreviation></Journal><ArticleTitle>Aortic regurgitation and pigmentation - unusual features of Noonan syndrome.</ArticleTitle><Pagination><MedlinePgn>211-4</MedlinePgn></Pagination><Abstract><AbstractText>A patient with typical features of Noonan's syndrome showed aortic regurgitation and widespread diffuse hyperpigmentation, features not previously associated with this syndrome. Detailed endocrine and dermatological studies failed to delineate the cause of hyperpigmentation. In addition to mild aortic regurgitation, cardiac catheterization revealed mild left ventricular dysfunction, probably due to primary myocardial disease. 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