Hennekam syndrome presenting as nonimmune hydrops fetalis, congenital chylothorax, and congenital pulmonary lymphangiectasia.
Identifieur interne : 004248 ( PubMed/Corpus ); précédent : 004247; suivant : 004249Hennekam syndrome presenting as nonimmune hydrops fetalis, congenital chylothorax, and congenital pulmonary lymphangiectasia.
Auteurs : Carlo Bellini ; Massimo Mazzella ; Cesare Arioni ; Corradino Campisi ; Gioconda Taddei ; Paolo Tomà ; Francesco Boccardo ; Raoul C. Hennekam ; Giovanni SerraSource :
- American journal of medical genetics. Part A [ 1552-4825 ] ; 2003.
English descriptors
- KwdEn :
- Abnormalities, Multiple (genetics), Child, Preschool, Chylothorax (congenital), Chylothorax (diagnosis), Chylothorax (genetics), Facies, Female, Humans, Hydrops Fetalis (diagnosis), Hydrops Fetalis (genetics), Lung Diseases (diagnosis), Lung Diseases (genetics), Lymph Nodes (pathology), Lymphangiectasis (diagnosis), Lymphangiectasis (genetics), Lymphedema (diagnosis), Lymphedema (genetics), Radiography, Thoracic, Syndrome, Tomography, X-Ray Computed.
- MESH :
- congenital : Chylothorax.
- diagnosis : Chylothorax, Hydrops Fetalis, Lung Diseases, Lymphangiectasis, Lymphedema.
- genetics : Abnormalities, Multiple, Chylothorax, Hydrops Fetalis, Lung Diseases, Lymphangiectasis, Lymphedema.
- pathology : Lymph Nodes.
- Child, Preschool, Facies, Female, Humans, Radiography, Thoracic, Syndrome, Tomography, X-Ray Computed.
Abstract
We report a female infant with congenital lymphedema, facial anomalies, intestinal lymphangiectasia consistent with a diagnosis of Hennekam syndrome. At birth the patient presented with severe respiratory distress due to nonimmune hydrops fetalis, a congenital chylothorax (CC), and pulmonary lymphangiectasia. Hydrops fetalis may be present in newborns with the Hennekam syndrome. Lymphoscintigraphy can be useful in explaining pleural-pulmonary involvement of this generalized lymph vessel malformation syndrome.
DOI: 10.1002/ajmg.a.20180
PubMed: 12794699
Links to Exploration step
pubmed:12794699Le document en format XML
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Gaslini, Largo G.Gaslini, 16147 Genoa, Italy. carlobellini@ospedale-gaslini.ge.it</nlm:affiliation></affiliation></author><author><name sortKey="Mazzella, Massimo" sort="Mazzella, Massimo" uniqKey="Mazzella M" first="Massimo" last="Mazzella">Massimo Mazzella</name></author><author><name sortKey="Arioni, Cesare" sort="Arioni, Cesare" uniqKey="Arioni C" first="Cesare" last="Arioni">Cesare Arioni</name></author><author><name sortKey="Campisi, Corradino" sort="Campisi, Corradino" uniqKey="Campisi C" first="Corradino" last="Campisi">Corradino Campisi</name></author><author><name sortKey="Taddei, Gioconda" sort="Taddei, Gioconda" uniqKey="Taddei G" first="Gioconda" last="Taddei">Gioconda Taddei</name></author><author><name sortKey="Toma, Paolo" sort="Toma, Paolo" uniqKey="Toma P" first="Paolo" last="Tomà">Paolo Tomà</name></author><author><name sortKey="Boccardo, Francesco" sort="Boccardo, Francesco" uniqKey="Boccardo F" first="Francesco" last="Boccardo">Francesco Boccardo</name></author><author><name sortKey="Hennekam, Raoul C" sort="Hennekam, Raoul C" uniqKey="Hennekam R" first="Raoul C" last="Hennekam">Raoul C. Hennekam</name></author><author><name sortKey="Serra, Giovanni" sort="Serra, Giovanni" uniqKey="Serra G" first="Giovanni" last="Serra">Giovanni Serra</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2003">2003</date><idno type="RBID">pubmed:12794699</idno><idno type="pmid">12794699</idno><idno type="doi">10.1002/ajmg.a.20180</idno><idno type="wicri:Area/PubMed/Corpus">004248</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">004248</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Hennekam syndrome presenting as nonimmune hydrops fetalis, congenital chylothorax, and congenital pulmonary lymphangiectasia.</title><author><name sortKey="Bellini, Carlo" sort="Bellini, Carlo" uniqKey="Bellini C" first="Carlo" last="Bellini">Carlo Bellini</name><affiliation><nlm:affiliation>Servizio di Patologia Neonatale, Dipartimento di Pediatria (DIPE), Università di Genoa, Istituto G. Gaslini, Largo G.Gaslini, 16147 Genoa, Italy. carlobellini@ospedale-gaslini.ge.it</nlm:affiliation></affiliation></author><author><name sortKey="Mazzella, Massimo" sort="Mazzella, Massimo" uniqKey="Mazzella M" first="Massimo" last="Mazzella">Massimo Mazzella</name></author><author><name sortKey="Arioni, Cesare" sort="Arioni, Cesare" uniqKey="Arioni C" first="Cesare" last="Arioni">Cesare Arioni</name></author><author><name sortKey="Campisi, Corradino" sort="Campisi, Corradino" uniqKey="Campisi C" first="Corradino" last="Campisi">Corradino Campisi</name></author><author><name sortKey="Taddei, Gioconda" sort="Taddei, Gioconda" uniqKey="Taddei G" first="Gioconda" last="Taddei">Gioconda Taddei</name></author><author><name sortKey="Toma, Paolo" sort="Toma, Paolo" uniqKey="Toma P" first="Paolo" last="Tomà">Paolo Tomà</name></author><author><name sortKey="Boccardo, Francesco" sort="Boccardo, Francesco" uniqKey="Boccardo F" first="Francesco" last="Boccardo">Francesco Boccardo</name></author><author><name sortKey="Hennekam, Raoul C" sort="Hennekam, Raoul C" uniqKey="Hennekam R" first="Raoul C" last="Hennekam">Raoul C. Hennekam</name></author><author><name sortKey="Serra, Giovanni" sort="Serra, Giovanni" uniqKey="Serra G" first="Giovanni" last="Serra">Giovanni Serra</name></author></analytic><series><title level="j">American journal of medical genetics. Part A</title><idno type="ISSN">1552-4825</idno><imprint><date when="2003" type="published">2003</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Abnormalities, Multiple (genetics)</term><term>Child, Preschool</term><term>Chylothorax (congenital)</term><term>Chylothorax (diagnosis)</term><term>Chylothorax (genetics)</term><term>Facies</term><term>Female</term><term>Humans</term><term>Hydrops Fetalis (diagnosis)</term><term>Hydrops Fetalis (genetics)</term><term>Lung Diseases (diagnosis)</term><term>Lung Diseases (genetics)</term><term>Lymph Nodes (pathology)</term><term>Lymphangiectasis (diagnosis)</term><term>Lymphangiectasis (genetics)</term><term>Lymphedema (diagnosis)</term><term>Lymphedema (genetics)</term><term>Radiography, Thoracic</term><term>Syndrome</term><term>Tomography, X-Ray Computed</term></keywords><keywords scheme="MESH" qualifier="congenital" xml:lang="en"><term>Chylothorax</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Chylothorax</term><term>Hydrops Fetalis</term><term>Lung Diseases</term><term>Lymphangiectasis</term><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Abnormalities, Multiple</term><term>Chylothorax</term><term>Hydrops Fetalis</term><term>Lung Diseases</term><term>Lymphangiectasis</term><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Lymph Nodes</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Child, Preschool</term><term>Facies</term><term>Female</term><term>Humans</term><term>Radiography, Thoracic</term><term>Syndrome</term><term>Tomography, X-Ray Computed</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We report a female infant with congenital lymphedema, facial anomalies, intestinal lymphangiectasia consistent with a diagnosis of Hennekam syndrome. At birth the patient presented with severe respiratory distress due to nonimmune hydrops fetalis, a congenital chylothorax (CC), and pulmonary lymphangiectasia. Hydrops fetalis may be present in newborns with the Hennekam syndrome. Lymphoscintigraphy can be useful in explaining pleural-pulmonary involvement of this generalized lymph vessel malformation syndrome.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">12794699</PMID><DateCreated><Year>2003</Year><Month>06</Month><Day>09</Day></DateCreated><DateCompleted><Year>2004</Year><Month>02</Month><Day>10</Day></DateCompleted><DateRevised><Year>2008</Year><Month>05</Month><Day>21</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">1552-4825</ISSN><JournalIssue CitedMedium="Print"><Volume>120A</Volume><Issue>1</Issue><PubDate><Year>2003</Year><Month>Jul</Month><Day>01</Day></PubDate></JournalIssue><Title>American journal of medical genetics. Part A</Title><ISOAbbreviation>Am. J. Med. Genet. A</ISOAbbreviation></Journal><ArticleTitle>Hennekam syndrome presenting as nonimmune hydrops fetalis, congenital chylothorax, and congenital pulmonary lymphangiectasia.</ArticleTitle><Pagination><MedlinePgn>92-6</MedlinePgn></Pagination><Abstract><AbstractText>We report a female infant with congenital lymphedema, facial anomalies, intestinal lymphangiectasia consistent with a diagnosis of Hennekam syndrome. At birth the patient presented with severe respiratory distress due to nonimmune hydrops fetalis, a congenital chylothorax (CC), and pulmonary lymphangiectasia. Hydrops fetalis may be present in newborns with the Hennekam syndrome. Lymphoscintigraphy can be useful in explaining pleural-pulmonary involvement of this generalized lymph vessel malformation syndrome.</AbstractText><CopyrightInformation>Copyright 2003 Wiley-Liss, Inc.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Bellini</LastName><ForeName>Carlo</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Servizio di Patologia Neonatale, Dipartimento di Pediatria (DIPE), Università di Genoa, Istituto G. Gaslini, Largo G.Gaslini, 16147 Genoa, Italy. carlobellini@ospedale-gaslini.ge.it</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Mazzella</LastName><ForeName>Massimo</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Arioni</LastName><ForeName>Cesare</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Campisi</LastName><ForeName>Corradino</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Taddei</LastName><ForeName>Gioconda</ForeName><Initials>G</Initials></Author><Author ValidYN="Y"><LastName>Tomà</LastName><ForeName>Paolo</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Boccardo</LastName><ForeName>Francesco</ForeName><Initials>F</Initials></Author><Author ValidYN="Y"><LastName>Hennekam</LastName><ForeName>Raoul C</ForeName><Initials>RC</Initials></Author><Author ValidYN="Y"><LastName>Serra</LastName><ForeName>Giovanni</ForeName><Initials>G</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Am J Med Genet A</MedlineTA><NlmUniqueID>101235741</NlmUniqueID><ISSNLinking>1552-4825</ISSNLinking></MedlineJournalInfo><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D000015" MajorTopicYN="N">Abnormalities, Multiple</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D002675" MajorTopicYN="N">Child, Preschool</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002916" MajorTopicYN="N">Chylothorax</DescriptorName><QualifierName UI="Q000151" MajorTopicYN="N">congenital</QualifierName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D019066" MajorTopicYN="N">Facies</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D015160" MajorTopicYN="N">Hydrops Fetalis</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008171" MajorTopicYN="N">Lung Diseases</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008198" MajorTopicYN="N">Lymph Nodes</DescriptorName><QualifierName UI="Q000473" MajorTopicYN="N">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008200" MajorTopicYN="N">Lymphangiectasis</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008209" MajorTopicYN="N">Lymphedema</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D013902" MajorTopicYN="N">Radiography, Thoracic</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D013577" MajorTopicYN="N">Syndrome</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D014057" MajorTopicYN="N">Tomography, X-Ray Computed</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2003</Year><Month>6</Month><Day>10</Day><Hour>5</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2004</Year><Month>2</Month><Day>11</Day><Hour>5</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2003</Year><Month>6</Month><Day>10</Day><Hour>5</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">12794699</ArticleId><ArticleId IdType="doi">10.1002/ajmg.a.20180</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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