[Ophthalmological findings in microcephaly-lymphoedema-chorioretinal dysplasia syndrome].
Identifieur interne : 002E95 ( PubMed/Curation ); précédent : 002E94; suivant : 002E96[Ophthalmological findings in microcephaly-lymphoedema-chorioretinal dysplasia syndrome].
Auteurs : S C Hatt Brupbacher [Suisse] ; O. Job ; P. Senn ; W. DedesSource :
- Klinische Monatsblatter fur Augenheilkunde [ 1439-3999 ] ; 2009.
Descripteurs français
- KwdFr :
- Choroïde (malformations), Dysplasie rétinienne (), Dysplasie rétinienne (diagnostic), Dysplasie rétinienne (génétique), Humains, Lymphoedème (), Lymphoedème (diagnostic), Lymphoedème (génétique), Malformations multiples (), Malformations multiples (diagnostic), Malformations multiples (génétique), Microcéphalie (), Microcéphalie (diagnostic), Microcéphalie (génétique), Mâle, Nourrisson, Syndrome.
- MESH :
- diagnostic : Dysplasie rétinienne, Lymphoedème, Malformations multiples, Microcéphalie.
- génétique : Dysplasie rétinienne, Lymphoedème, Malformations multiples, Microcéphalie.
- malformations : Choroïde.
- Dysplasie rétinienne, Humains, Lymphoedème, Malformations multiples, Microcéphalie, Mâle, Nourrisson, Syndrome.
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
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pubmed:19384796Le 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 wicri:level="1"><nlm:affiliation>Augenklinik, Luzerner Kantonsspital, Luzern, Schweiz. salome.hatt@triemli.stzh.ch</nlm:affiliation>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">[Ophthalmological findings in microcephaly-lymphoedema-chorioretinal dysplasia syndrome].</title>
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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="KwdFr" xml:lang="fr"><term>Choroïde (malformations)</term>
<term>Dysplasie rétinienne ()</term>
<term>Dysplasie rétinienne (diagnostic)</term>
<term>Dysplasie rétinienne (génétique)</term>
<term>Humains</term>
<term>Lymphoedème ()</term>
<term>Lymphoedème (diagnostic)</term>
<term>Lymphoedème (génétique)</term>
<term>Malformations multiples ()</term>
<term>Malformations multiples (diagnostic)</term>
<term>Malformations multiples (génétique)</term>
<term>Microcéphalie ()</term>
<term>Microcéphalie (diagnostic)</term>
<term>Microcéphalie (génétique)</term>
<term>Mâle</term>
<term>Nourrisson</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="diagnostic" xml:lang="fr"><term>Dysplasie rétinienne</term>
<term>Lymphoedème</term>
<term>Malformations multiples</term>
<term>Microcéphalie</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="génétique" xml:lang="fr"><term>Dysplasie rétinienne</term>
<term>Lymphoedème</term>
<term>Malformations multiples</term>
<term>Microcéphalie</term>
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<keywords scheme="MESH" qualifier="malformations" xml:lang="fr"><term>Choroïde</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>
<keywords scheme="MESH" xml:lang="fr"><term>Dysplasie rétinienne</term>
<term>Humains</term>
<term>Lymphoedème</term>
<term>Malformations multiples</term>
<term>Microcéphalie</term>
<term>Mâle</term>
<term>Nourrisson</term>
<term>Syndrome</term>
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<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>
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<Day>22</Day>
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<Month>11</Month>
<Day>11</Day>
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<Issue>4</Issue>
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</PubDate>
</JournalIssue>
<Title>Klinische Monatsblatter fur Augenheilkunde</Title>
<ISOAbbreviation>Klin Monbl Augenheilkd</ISOAbbreviation>
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<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>
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<AffiliationInfo><Affiliation>Augenklinik, Luzerner Kantonsspital, Luzern, Schweiz. salome.hatt@triemli.stzh.ch</Affiliation>
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<VernacularTitle>Okuläre Veränderungen beim Mikrozephalie-Lymphödem-Chorioretinale-Dysplasie-Syndrom.</VernacularTitle>
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