Microcephaly-lymphedema-chorioretinal dysplasia: a unique genetic syndrome with variable expression and possible characteristic facial appearance.
Identifieur interne : 004C07 ( PubMed/Corpus ); précédent : 004C06; suivant : 004C08Microcephaly-lymphedema-chorioretinal dysplasia: a unique genetic syndrome with variable expression and possible characteristic facial appearance.
Auteurs : C. Limwongse ; R E Wyszynski ; L H Dickerman ; N H RobinSource :
- American journal of medical genetics [ 0148-7299 ] ; 1999.
English descriptors
- KwdEn :
- MESH :
- abnormalities : Choroid.
- genetics : Heart Septal Defects, Atrial, Lymphedema, Microcephaly, Retinal Dysplasia.
- Adolescent, Facies, Female, Humans, Male, Pedigree, Syndrome.
Abstract
We report on a follow-up examination of a family with microcephaly and lymphedema. The finding of chorioretinal dysplasia with variable visual deficit in multiple relatives, which was not previously discovered, supports the concept of microcephaly, lymphedema, and chorioretinopathy as being a single autosomal dominant genetic entity with variable expression. We recommend that fundoscopic examination be performed in all patients with microcephaly with or without lymphedema.
PubMed: 10482868
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Limwongse</name><affiliation><nlm:affiliation>Center for Human Genetics, Department of Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, Cleveland, Ohio 44106, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Wyszynski, R E" sort="Wyszynski, R E" uniqKey="Wyszynski R" first="R E" last="Wyszynski">R E Wyszynski</name></author><author><name sortKey="Dickerman, L H" sort="Dickerman, L H" uniqKey="Dickerman L" first="L H" last="Dickerman">L H Dickerman</name></author><author><name sortKey="Robin, N H" sort="Robin, N H" uniqKey="Robin N" first="N H" last="Robin">N H Robin</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="1999">1999</date><idno type="RBID">pubmed:10482868</idno><idno type="pmid">10482868</idno><idno type="wicri:Area/PubMed/Corpus">004C07</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">004C07</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Microcephaly-lymphedema-chorioretinal dysplasia: a unique genetic syndrome with variable expression and possible characteristic facial appearance.</title><author><name sortKey="Limwongse, C" sort="Limwongse, C" uniqKey="Limwongse C" first="C" last="Limwongse">C. Limwongse</name><affiliation><nlm:affiliation>Center for Human Genetics, Department of Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, Cleveland, Ohio 44106, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Wyszynski, R E" sort="Wyszynski, R E" uniqKey="Wyszynski R" first="R E" last="Wyszynski">R E Wyszynski</name></author><author><name sortKey="Dickerman, L H" sort="Dickerman, L H" uniqKey="Dickerman L" first="L H" last="Dickerman">L H Dickerman</name></author><author><name sortKey="Robin, N H" sort="Robin, N H" uniqKey="Robin N" first="N H" last="Robin">N H Robin</name></author></analytic><series><title level="j">American journal of medical genetics</title><idno type="ISSN">0148-7299</idno><imprint><date when="1999" type="published">1999</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Choroid (abnormalities)</term><term>Facies</term><term>Female</term><term>Heart Septal Defects, Atrial (genetics)</term><term>Humans</term><term>Lymphedema (genetics)</term><term>Male</term><term>Microcephaly (genetics)</term><term>Pedigree</term><term>Retinal Dysplasia (genetics)</term><term>Syndrome</term></keywords><keywords scheme="MESH" qualifier="abnormalities" xml:lang="en"><term>Choroid</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Heart Septal Defects, Atrial</term><term>Lymphedema</term><term>Microcephaly</term><term>Retinal Dysplasia</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Facies</term><term>Female</term><term>Humans</term><term>Male</term><term>Pedigree</term><term>Syndrome</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We report on a follow-up examination of a family with microcephaly and lymphedema. The finding of chorioretinal dysplasia with variable visual deficit in multiple relatives, which was not previously discovered, supports the concept of microcephaly, lymphedema, and chorioretinopathy as being a single autosomal dominant genetic entity with variable expression. We recommend that fundoscopic examination be performed in all patients with microcephaly with or without lymphedema.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">10482868</PMID><DateCreated><Year>1999</Year><Month>11</Month><Day>05</Day></DateCreated><DateCompleted><Year>1999</Year><Month>11</Month><Day>05</Day></DateCompleted><DateRevised><Year>2004</Year><Month>11</Month><Day>17</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0148-7299</ISSN><JournalIssue CitedMedium="Print"><Volume>86</Volume><Issue>3</Issue><PubDate><Year>1999</Year><Month>Sep</Month><Day>17</Day></PubDate></JournalIssue><Title>American journal of medical genetics</Title><ISOAbbreviation>Am. J. Med. Genet.</ISOAbbreviation></Journal><ArticleTitle>Microcephaly-lymphedema-chorioretinal dysplasia: a unique genetic syndrome with variable expression and possible characteristic facial appearance.</ArticleTitle><Pagination><MedlinePgn>215-8</MedlinePgn></Pagination><Abstract><AbstractText>We report on a follow-up examination of a family with microcephaly and lymphedema. The finding of chorioretinal dysplasia with variable visual deficit in multiple relatives, which was not previously discovered, supports the concept of microcephaly, lymphedema, and chorioretinopathy as being a single autosomal dominant genetic entity with variable expression. We recommend that fundoscopic examination be performed in all patients with microcephaly with or without lymphedema.</AbstractText><CopyrightInformation>Copyright 1999 Wiley-Liss, Inc.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Limwongse</LastName><ForeName>C</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Center for Human Genetics, Department of Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, Cleveland, Ohio 44106, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Wyszynski</LastName><ForeName>R E</ForeName><Initials>RE</Initials></Author><Author ValidYN="Y"><LastName>Dickerman</LastName><ForeName>L H</ForeName><Initials>LH</Initials></Author><Author ValidYN="Y"><LastName>Robin</LastName><ForeName>N H</ForeName><Initials>NH</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</MedlineTA><NlmUniqueID>7708900</NlmUniqueID><ISSNLinking>0148-7299</ISSNLinking></MedlineJournalInfo><CitationSubset>IM</CitationSubset><CommentsCorrectionsList><CommentsCorrections RefType="CommentIn"><RefSource>Am J Med Genet. 2000 Dec 18;95(5):513-5</RefSource><PMID Version="1">11146476</PMID></CommentsCorrections></CommentsCorrectionsList><MeshHeadingList><MeshHeading><DescriptorName UI="D000293" MajorTopicYN="N">Adolescent</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002829" MajorTopicYN="N">Choroid</DescriptorName><QualifierName UI="Q000002" MajorTopicYN="Y">abnormalities</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D019066" MajorTopicYN="N">Facies</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006344" MajorTopicYN="N">Heart Septal Defects, Atrial</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008209" MajorTopicYN="N">Lymphedema</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008831" MajorTopicYN="N">Microcephaly</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D010375" MajorTopicYN="N">Pedigree</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D015792" MajorTopicYN="N">Retinal Dysplasia</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D013577" MajorTopicYN="N">Syndrome</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>1999</Year><Month>9</Month><Day>14</Day></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>1999</Year><Month>9</Month><Day>14</Day><Hour>0</Hour><Minute>1</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>1999</Year><Month>9</Month><Day>14</Day><Hour>0</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">10482868</ArticleId><ArticleId IdType="pii">10.1002/(SICI)1096-8628(19990917)86:3<215::AID-AJMG4>3.0.CO;2-E</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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