LymphedemaV1, PubMed, Corpus, bibRecord, 002E95

[Ophthalmological findings in microcephaly-lymphoedema-chorioretinal dysplasia syndrome].

Identifieur interne : 002E95 ( PubMed/Corpus ); précédent : 002E94; suivant : 002E96

[Ophthalmological findings in microcephaly-lymphoedema-chorioretinal dysplasia syndrome].

Auteurs : S C Hatt Brupbacher ; O. Job ; P. Senn ; W. Dedes

Source :

Klinische Monatsblatter fur Augenheilkunde [ 1439-3999 ] ; 2009.

RBID : pubmed:19384796

English descriptors

KwdEn :
- Abnormalities, Multiple (diagnosis), Abnormalities, Multiple (genetics), Abnormalities, Multiple (therapy), Choroid (abnormalities), Humans, Infant, Lymphedema (diagnosis), Lymphedema (genetics), Lymphedema (therapy), Male, Microcephaly (diagnosis), Microcephaly (genetics), Microcephaly (therapy), Retinal Dysplasia (diagnosis), Retinal Dysplasia (genetics), Retinal Dysplasia (therapy), Syndrome.
MESH :
- abnormalities : Choroid.
- diagnosis : Abnormalities, Multiple, Lymphedema, Microcephaly, Retinal Dysplasia.
- genetics : Abnormalities, Multiple, Lymphedema, Microcephaly, Retinal Dysplasia.
- therapy : Abnormalities, Multiple, Lymphedema, Microcephaly, Retinal Dysplasia.
- Humans, Infant, Male, Syndrome.

Abstract

Microcephaly-lymphoedema-chorioretinal dysplasia (MLCRD) is a rare syndrome characterized by microcephaly, chorioretinal dysplasia, lymphoedema and a characteristic facial phenotype. The exact mode of inheritance is uncertain, autosomal dominant, recessive and X-chromosomal cases have been reported.

DOI: 10.1055/s-0028-1109313
PubMed: 19384796

Links to Exploration step

pubmed:19384796

Le document en format XML

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<author><name sortKey="Hatt Brupbacher, S C" sort="Hatt Brupbacher, S C" uniqKey="Hatt Brupbacher S" first="S C" last="Hatt Brupbacher">S C Hatt Brupbacher</name>
<affiliation><nlm:affiliation>Augenklinik, Luzerner Kantonsspital, Luzern, Schweiz. salome.hatt@triemli.stzh.ch</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Job, O" sort="Job, O" uniqKey="Job O" first="O" last="Job">O. Job</name>
</author>
<author><name sortKey="Senn, P" sort="Senn, P" uniqKey="Senn P" first="P" last="Senn">P. Senn</name>
</author>
<author><name sortKey="Dedes, W" sort="Dedes, W" uniqKey="Dedes W" first="W" last="Dedes">W. Dedes</name>
</author>
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<idno type="doi">10.1055/s-0028-1109313</idno>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">[Ophthalmological findings in microcephaly-lymphoedema-chorioretinal dysplasia syndrome].</title>
<author><name sortKey="Hatt Brupbacher, S C" sort="Hatt Brupbacher, S C" uniqKey="Hatt Brupbacher S" first="S C" last="Hatt Brupbacher">S C Hatt Brupbacher</name>
<affiliation><nlm:affiliation>Augenklinik, Luzerner Kantonsspital, Luzern, Schweiz. salome.hatt@triemli.stzh.ch</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Job, O" sort="Job, O" uniqKey="Job O" first="O" last="Job">O. Job</name>
</author>
<author><name sortKey="Senn, P" sort="Senn, P" uniqKey="Senn P" first="P" last="Senn">P. Senn</name>
</author>
<author><name sortKey="Dedes, W" sort="Dedes, W" uniqKey="Dedes W" first="W" last="Dedes">W. Dedes</name>
</author>
</analytic>
<series><title level="j">Klinische Monatsblatter fur Augenheilkunde</title>
<idno type="eISSN">1439-3999</idno>
<imprint><date when="2009" type="published">2009</date>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Abnormalities, Multiple (diagnosis)</term>
<term>Abnormalities, Multiple (genetics)</term>
<term>Abnormalities, Multiple (therapy)</term>
<term>Choroid (abnormalities)</term>
<term>Humans</term>
<term>Infant</term>
<term>Lymphedema (diagnosis)</term>
<term>Lymphedema (genetics)</term>
<term>Lymphedema (therapy)</term>
<term>Male</term>
<term>Microcephaly (diagnosis)</term>
<term>Microcephaly (genetics)</term>
<term>Microcephaly (therapy)</term>
<term>Retinal Dysplasia (diagnosis)</term>
<term>Retinal Dysplasia (genetics)</term>
<term>Retinal Dysplasia (therapy)</term>
<term>Syndrome</term>
</keywords>
<keywords scheme="MESH" qualifier="abnormalities" xml:lang="en"><term>Choroid</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Abnormalities, Multiple</term>
<term>Lymphedema</term>
<term>Microcephaly</term>
<term>Retinal Dysplasia</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Abnormalities, Multiple</term>
<term>Lymphedema</term>
<term>Microcephaly</term>
<term>Retinal Dysplasia</term>
</keywords>
<keywords scheme="MESH" qualifier="therapy" xml:lang="en"><term>Abnormalities, Multiple</term>
<term>Lymphedema</term>
<term>Microcephaly</term>
<term>Retinal Dysplasia</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Humans</term>
<term>Infant</term>
<term>Male</term>
<term>Syndrome</term>
</keywords>
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</teiHeader>
<front><div type="abstract" xml:lang="en">Microcephaly-lymphoedema-chorioretinal dysplasia (MLCRD) is a rare syndrome characterized by microcephaly, chorioretinal dysplasia, lymphoedema and a characteristic facial phenotype. The exact mode of inheritance is uncertain, autosomal dominant, recessive and X-chromosomal cases have been reported.</div>
</front>
</TEI>
<pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">19384796</PMID>
<DateCreated><Year>2009</Year>
<Month>04</Month>
<Day>22</Day>
</DateCreated>
<DateCompleted><Year>2009</Year>
<Month>07</Month>
<Day>13</Day>
</DateCompleted>
<DateRevised><Year>2009</Year>
<Month>11</Month>
<Day>11</Day>
</DateRevised>
<Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1439-3999</ISSN>
<JournalIssue CitedMedium="Internet"><Volume>226</Volume>
<Issue>4</Issue>
<PubDate><Year>2009</Year>
<Month>Apr</Month>
</PubDate>
</JournalIssue>
<Title>Klinische Monatsblatter fur Augenheilkunde</Title>
<ISOAbbreviation>Klin Monbl Augenheilkd</ISOAbbreviation>
</Journal>
<ArticleTitle>[Ophthalmological findings in microcephaly-lymphoedema-chorioretinal dysplasia syndrome].</ArticleTitle>
<Pagination><MedlinePgn>344-6</MedlinePgn>
</Pagination>
<ELocationID EIdType="doi" ValidYN="Y">10.1055/s-0028-1109313</ELocationID>
<Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Microcephaly-lymphoedema-chorioretinal dysplasia (MLCRD) is a rare syndrome characterized by microcephaly, chorioretinal dysplasia, lymphoedema and a characteristic facial phenotype. The exact mode of inheritance is uncertain, autosomal dominant, recessive and X-chromosomal cases have been reported.</AbstractText>
<AbstractText Label="HISTORY AND SIGNS" NlmCategory="METHODS">A three-month-old boy with intrauterine growth retardation and microcephaly was referred to our clinic. The ophthalmic examination revealed a left eye with a persistent hyperplastic primary vitreous. On funduscopy of the right eye pale optic disc, chorioretinal dysplasia with pigmentary and atrophic changes and falciform folds were noted. General morphological changes and ophthalmological findings led to the diagnosis of MLCRD-syndrome.</AbstractText>
<AbstractText Label="THERAPY AND OUTCOME" NlmCategory="RESULTS">Eye examinations of the parents and the grandparents did not show any retinal changes, therefore an autosomal dominant inheritance was excluded.</AbstractText>
<AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">An ophthalmological examination in children with microcephaly and facial dysmorphies is essential. Parents and grandparents should also be considered for eye examination if a child has chorioretinal dysplasia and microcephaly.</AbstractText>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Hatt Brupbacher</LastName>
<ForeName>S C</ForeName>
<Initials>SC</Initials>
<AffiliationInfo><Affiliation>Augenklinik, Luzerner Kantonsspital, Luzern, Schweiz. salome.hatt@triemli.stzh.ch</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Job</LastName>
<ForeName>O</ForeName>
<Initials>O</Initials>
</Author>
<Author ValidYN="Y"><LastName>Senn</LastName>
<ForeName>P</ForeName>
<Initials>P</Initials>
</Author>
<Author ValidYN="Y"><LastName>Dedes</LastName>
<ForeName>W</ForeName>
<Initials>W</Initials>
</Author>
</AuthorList>
<Language>ger</Language>
<PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType>
<PublicationType UI="D004740">English Abstract</PublicationType>
<PublicationType UI="D016428">Journal Article</PublicationType>
</PublicationTypeList>
<VernacularTitle>Okuläre Veränderungen beim Mikrozephalie-Lymphödem-Chorioretinale-Dysplasie-Syndrom.</VernacularTitle>
<ArticleDate DateType="Electronic"><Year>2009</Year>
<Month>04</Month>
<Day>21</Day>
</ArticleDate>
</Article>
<MedlineJournalInfo><Country>Germany</Country>
<MedlineTA>Klin Monbl Augenheilkd</MedlineTA>
<NlmUniqueID>0014133</NlmUniqueID>
<ISSNLinking>0023-2165</ISSNLinking>
</MedlineJournalInfo>
<CitationSubset>IM</CitationSubset>
<MeshHeadingList><MeshHeading><DescriptorName UI="D000015" MajorTopicYN="N">Abnormalities, Multiple</DescriptorName>
<QualifierName UI="Q000175" MajorTopicYN="Y">diagnosis</QualifierName>
<QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName>
<QualifierName UI="Q000628" MajorTopicYN="N">therapy</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D002829" MajorTopicYN="N">Choroid</DescriptorName>
<QualifierName UI="Q000002" MajorTopicYN="Y">abnormalities</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D007223" MajorTopicYN="N">Infant</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D008209" MajorTopicYN="N">Lymphedema</DescriptorName>
<QualifierName UI="Q000175" MajorTopicYN="Y">diagnosis</QualifierName>
<QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName>
<QualifierName UI="Q000628" MajorTopicYN="N">therapy</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D008831" MajorTopicYN="N">Microcephaly</DescriptorName>
<QualifierName UI="Q000175" MajorTopicYN="Y">diagnosis</QualifierName>
<QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName>
<QualifierName UI="Q000628" MajorTopicYN="N">therapy</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D015792" MajorTopicYN="N">Retinal Dysplasia</DescriptorName>
<QualifierName UI="Q000175" MajorTopicYN="Y">diagnosis</QualifierName>
<QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName>
<QualifierName UI="Q000628" MajorTopicYN="N">therapy</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D013577" MajorTopicYN="N">Syndrome</DescriptorName>
</MeshHeading>
</MeshHeadingList>
</MedlineCitation>
<PubmedData><History><PubMedPubDate PubStatus="entrez"><Year>2009</Year>
<Month>4</Month>
<Day>23</Day>
<Hour>9</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="pubmed"><Year>2009</Year>
<Month>4</Month>
<Day>23</Day>
<Hour>9</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="medline"><Year>2009</Year>
<Month>7</Month>
<Day>14</Day>
<Hour>9</Hour>
<Minute>0</Minute>
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</History>
<PublicationStatus>ppublish</PublicationStatus>
<ArticleIdList><ArticleId IdType="pubmed">19384796</ArticleId>
<ArticleId IdType="doi">10.1055/s-0028-1109313</ArticleId>
</ArticleIdList>
</PubmedData>
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</record>

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[Ophthalmological findings in microcephaly-lymphoedema-chorioretinal dysplasia syndrome].

[Ophthalmological findings in microcephaly-lymphoedema-chorioretinal dysplasia syndrome].

Source :

English descriptors

Abstract

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki