Familial congenital non-immune hydrops, chylothorax, and pulmonary lymphangiectasia.
Identifieur interne : 003632 ( PubMed/Checkpoint ); précédent : 003631; suivant : 003633Familial congenital non-immune hydrops, chylothorax, and pulmonary lymphangiectasia.
Auteurs : David A. Stevenson [États-Unis] ; Theodore J. Pysher ; Robert M. Ward ; John C. CareySource :
- American journal of medical genetics. Part A [ 1552-4825 ] ; 2006.
Descripteurs français
- KwdFr :
- Adolescent, Chylothorax (), Chylothorax (génétique), Femelle, Grossesse, Gènes récessifs, Humains, Issue fatale, Lymphangiectasie (), Lymphangiectasie (génétique), Lymphoedème (), Lymphoedème (génétique), Maladies pulmonaires (), Maladies pulmonaires (génétique), Malformations multiples, Mâle, Nouveau-né, Oedème (), Oedème (génétique), Âge gestationnel, Épanchement pleural.
- MESH :
- génétique : Chylothorax, Lymphangiectasie, Lymphoedème, Maladies pulmonaires, Oedème.
- Adolescent, Chylothorax, Femelle, Grossesse, Gènes récessifs, Humains, Issue fatale, Lymphangiectasie, Lymphoedème, Maladies pulmonaires, Malformations multiples, Mâle, Nouveau-né, Oedème, Âge gestationnel, Épanchement pleural.
English descriptors
- KwdEn :
- Abnormalities, Multiple, Adolescent, Chylothorax (congenital), Chylothorax (genetics), Edema (congenital), Edema (genetics), Fatal Outcome, Female, Genes, Recessive, Gestational Age, Humans, Infant, Newborn, Lung Diseases (congenital), Lung Diseases (genetics), Lymphangiectasis (congenital), Lymphangiectasis (genetics), Lymphedema (congenital), Lymphedema (genetics), Male, Pleural Effusion, Pregnancy.
- MESH :
- congenital : Chylothorax, Edema, Lung Diseases, Lymphangiectasis, Lymphedema.
- genetics : Chylothorax, Edema, Lung Diseases, Lymphangiectasis, Lymphedema.
- Abnormalities, Multiple, Adolescent, Fatal Outcome, Female, Genes, Recessive, Gestational Age, Humans, Infant, Newborn, Male, Pleural Effusion, Pregnancy.
Abstract
Pulmonary lymphangiectasia is an uncommon congenital anomaly, and familial occurrence has rarely been reported. We report on two sibs with bilateral pleural effusion/chylothorax and hydrops who died neonatally. One sib required prenatal intrauterine hemithoracic drainage. Autopsy confirmed congenital pulmonary lymphangiectasia (CPL) histologically in the first case. Hydrops, characterized as subcutaneous edema and effusions in two or more body cavities, may be due to a variety of factors, but the co-occurrence of CPL in one of these sibs, although rare, supports the notion that chylothorax and hydrops may be caused by structural lesions of lymph channels. Although most cases of CPL are sporadic, the reported sibs support autosomal recessive inheritance, with intrafamilial variability of a lymphatic disorder on a genetic basis. Mutations in vascular endothelial growth factor receptor-3 (VEGFR3) in families with Milroy disease, mutations of FOXC2 in the lymphedema-distichiasis syndrome, and fatal chylothorax in alpha9-deficient mice are potential candidate genes.
DOI: 10.1002/ajmg.a.31093
PubMed: 16419129
Affiliations:
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Stevenson</name><affiliation wicri:level="1"><nlm:affiliation>Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah 84132, USA. david.stevenson@hsc.utah.edu</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah 84132</wicri:regionArea><wicri:noRegion>Utah 84132</wicri:noRegion></affiliation></author><author><name sortKey="Pysher, Theodore J" sort="Pysher, Theodore J" uniqKey="Pysher T" first="Theodore J" last="Pysher">Theodore J. Pysher</name></author><author><name sortKey="Ward, Robert M" sort="Ward, Robert M" uniqKey="Ward R" first="Robert M" last="Ward">Robert M. Ward</name></author><author><name sortKey="Carey, John C" sort="Carey, John C" uniqKey="Carey J" first="John C" last="Carey">John C. Carey</name></author></analytic><series><title level="j">American journal of medical genetics. 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We report on two sibs with bilateral pleural effusion/chylothorax and hydrops who died neonatally. One sib required prenatal intrauterine hemithoracic drainage. Autopsy confirmed congenital pulmonary lymphangiectasia (CPL) histologically in the first case. Hydrops, characterized as subcutaneous edema and effusions in two or more body cavities, may be due to a variety of factors, but the co-occurrence of CPL in one of these sibs, although rare, supports the notion that chylothorax and hydrops may be caused by structural lesions of lymph channels. Although most cases of CPL are sporadic, the reported sibs support autosomal recessive inheritance, with intrafamilial variability of a lymphatic disorder on a genetic basis. Mutations in vascular endothelial growth factor receptor-3 (VEGFR3) in families with Milroy disease, mutations of FOXC2 in the lymphedema-distichiasis syndrome, and fatal chylothorax in alpha9-deficient mice are potential candidate genes.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">16419129</PMID><DateCreated><Year>2006</Year><Month>01</Month><Day>26</Day></DateCreated><DateCompleted><Year>2006</Year><Month>03</Month><Day>23</Day></DateCompleted><DateRevised><Year>2017</Year><Month>02</Month><Day>19</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">1552-4825</ISSN><JournalIssue CitedMedium="Print"><Volume>140</Volume><Issue>4</Issue><PubDate><Year>2006</Year><Month>Feb</Month><Day>15</Day></PubDate></JournalIssue><Title>American journal of medical genetics. Part A</Title><ISOAbbreviation>Am. J. Med. Genet. A</ISOAbbreviation></Journal><ArticleTitle>Familial congenital non-immune hydrops, chylothorax, and pulmonary lymphangiectasia.</ArticleTitle><Pagination><MedlinePgn>368-72</MedlinePgn></Pagination><Abstract><AbstractText>Pulmonary lymphangiectasia is an uncommon congenital anomaly, and familial occurrence has rarely been reported. We report on two sibs with bilateral pleural effusion/chylothorax and hydrops who died neonatally. One sib required prenatal intrauterine hemithoracic drainage. Autopsy confirmed congenital pulmonary lymphangiectasia (CPL) histologically in the first case. Hydrops, characterized as subcutaneous edema and effusions in two or more body cavities, may be due to a variety of factors, but the co-occurrence of CPL in one of these sibs, although rare, supports the notion that chylothorax and hydrops may be caused by structural lesions of lymph channels. Although most cases of CPL are sporadic, the reported sibs support autosomal recessive inheritance, with intrafamilial variability of a lymphatic disorder on a genetic basis. Mutations in vascular endothelial growth factor receptor-3 (VEGFR3) in families with Milroy disease, mutations of FOXC2 in the lymphedema-distichiasis syndrome, and fatal chylothorax in alpha9-deficient mice are potential candidate genes.</AbstractText><CopyrightInformation>Copyright (c) 2006 Wiley-Liss, Inc.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Stevenson</LastName><ForeName>David A</ForeName><Initials>DA</Initials><AffiliationInfo><Affiliation>Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah 84132, USA. david.stevenson@hsc.utah.edu</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Pysher</LastName><ForeName>Theodore J</ForeName><Initials>TJ</Initials></Author><Author ValidYN="Y"><LastName>Ward</LastName><ForeName>Robert M</ForeName><Initials>RM</Initials></Author><Author ValidYN="Y"><LastName>Carey</LastName><ForeName>John C</ForeName><Initials>JC</Initials></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>M01-RR00064</GrantID><Acronym>RR</Acronym><Agency>NCRR NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>U10 HD045986</GrantID><Acronym>HD</Acronym><Agency>NICHD NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>K23 NS052500-01</GrantID><Acronym>NS</Acronym><Agency>NINDS NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>K23 NS052500</GrantID><Acronym>NS</Acronym><Agency>NINDS NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>M01 RR000064</GrantID><Acronym>RR</Acronym><Agency>NCRR NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>1 K23 NS052500-01</GrantID><Acronym>NS</Acronym><Agency>NINDS NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>1 U10 HD045986-01</GrantID><Acronym>HD</Acronym><Agency>NICHD NIH HHS</Agency><Country>United States</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D052061">Research Support, N.I.H., Extramural</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</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><CommentsCorrectionsList><CommentsCorrections RefType="CommentIn"><RefSource>Am J Med Genet A. 2006 Aug 1;140(15):1709</RefSource><PMID Version="1">16830331</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Clin Invest. 2003 Mar;111(5):717-25</RefSource><PMID Version="1">12618526</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Am J Dis Child. 1970 Oct;120(4):314-9</RefSource><PMID Version="1">5493829</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Obstet Gynaecol. 1997 Sep;17(5):492-4</RefSource><PMID Version="1">15511936</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Hum Mol Genet. 2001 May 15;10(11):1185-9</RefSource><PMID Version="1">11371511</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Ann N Y Acad Sci. 2002 Dec;979:94-110</RefSource><PMID Version="1">12543720</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Am J Hum Genet. 2000 Aug;67(2):295-301</RefSource><PMID Version="1">10856194</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Ann N Y Acad Sci. 2002 Dec;979:39-51; discussion 76-9</RefSource><PMID Version="1">12543715</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Med Genet. 2003 Sep;40(9):697-703</RefSource><PMID Version="1">12960217</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Eur J Pediatr. 1998 Jun;157(6):498-501</RefSource><PMID Version="1">9667408</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Am J Dis Child. 1981 Jun;135(6):532-4</RefSource><PMID Version="1">7234788</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Am J Ophthalmol. 2002 Oct;134(4):592-6</RefSource><PMID Version="1">12383817</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Am J Med Genet. 2000 Aug 14;93(4):264-8</RefSource><PMID Version="1">10946350</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Am J Med Genet. 1996 Dec 30;66(4):438-40</RefSource><PMID Version="1">8989463</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Lymphology. 2004 Mar;37(1):22-30</RefSource><PMID Version="1">15109074</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Am J Med Genet. 1993 Aug 1;47(1):54-8</RefSource><PMID Version="1">8368253</PMID></CommentsCorrections></CommentsCorrectionsList><MeshHeadingList><MeshHeading><DescriptorName UI="D000015" MajorTopicYN="Y">Abnormalities, Multiple</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000293" MajorTopicYN="N">Adolescent</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002916" MajorTopicYN="N">Chylothorax</DescriptorName><QualifierName UI="Q000151" MajorTopicYN="Y">congenital</QualifierName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D004487" MajorTopicYN="N">Edema</DescriptorName><QualifierName UI="Q000151" MajorTopicYN="Y">congenital</QualifierName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D017809" MajorTopicYN="N">Fatal Outcome</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005808" MajorTopicYN="N">Genes, Recessive</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005865" MajorTopicYN="N">Gestational Age</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D007231" MajorTopicYN="N">Infant, Newborn</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008171" MajorTopicYN="N">Lung Diseases</DescriptorName><QualifierName UI="Q000151" MajorTopicYN="Y">congenital</QualifierName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008200" MajorTopicYN="N">Lymphangiectasis</DescriptorName><QualifierName UI="Q000151" MajorTopicYN="Y">congenital</QualifierName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008209" MajorTopicYN="N">Lymphedema</DescriptorName><QualifierName UI="Q000151" MajorTopicYN="Y">congenital</QualifierName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D010996" MajorTopicYN="N">Pleural Effusion</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D011247" MajorTopicYN="N">Pregnancy</DescriptorName></MeshHeading></MeshHeadingList><OtherID Source="NLM">NIHMS68075</OtherID><OtherID Source="NLM">PMC2568883</OtherID></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2006</Year><Month>1</Month><Day>19</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2006</Year><Month>3</Month><Day>24</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2006</Year><Month>1</Month><Day>19</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">16419129</ArticleId><ArticleId IdType="doi">10.1002/ajmg.a.31093</ArticleId><ArticleId IdType="pmc">PMC2568883</ArticleId><ArticleId IdType="mid">NIHMS68075</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>États-Unis</li></country></list><tree><noCountry><name sortKey="Carey, John C" sort="Carey, John C" uniqKey="Carey J" first="John C" last="Carey">John C. Carey</name><name sortKey="Pysher, Theodore J" sort="Pysher, Theodore J" uniqKey="Pysher T" first="Theodore J" last="Pysher">Theodore J. Pysher</name><name sortKey="Ward, Robert M" sort="Ward, Robert M" uniqKey="Ward R" first="Robert M" last="Ward">Robert M. Ward</name></noCountry><country name="États-Unis"><noRegion><name sortKey="Stevenson, David A" sort="Stevenson, David A" uniqKey="Stevenson D" first="David A" last="Stevenson">David A. Stevenson</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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