Microcephaly-lymphedema-chorioretinal dysplasia associated with pachymicrogyria and atrophy of the cerebellar vermis: an integration of brain-ocular migration disorders.
Identifieur interne : 002222 ( PubMed/Corpus ); précédent : 002221; suivant : 002223Microcephaly-lymphedema-chorioretinal dysplasia associated with pachymicrogyria and atrophy of the cerebellar vermis: an integration of brain-ocular migration disorders.
Auteurs : Natalia Pastora ; Jesus Peralta ; Irene Canal-Fontcuberta ; Anna Grabowska ; Jose S. Pulido ; Jose Abelairas ; Felix Armada ; Alfredo Garcia-AlixSource :
- Ophthalmic genetics [ 1744-5094 ] ; 2012.
English descriptors
- KwdEn :
- Abnormalities, Multiple, Cerebellar Diseases (diagnosis), Cerebellar Diseases (genetics), Cerebellum (abnormalities), Eye Abnormalities (diagnosis), Eye Abnormalities (genetics), Facies, Female, Gestational Age, Humans, Infant, Newborn, Kidney Diseases, Cystic (diagnosis), Kidney Diseases, Cystic (genetics), Lymphedema (diagnosis), Lymphedema (genetics), Magnetic Resonance Imaging, Malformations of Cortical Development (diagnosis), Malformations of Cortical Development (genetics), Microcephaly (diagnosis), Microcephaly (genetics), Optic Nerve (abnormalities), Retina (abnormalities), Retinal Dysplasia (diagnosis), Retinal Dysplasia (genetics), Retinal Vessels (abnormalities).
- MESH :
- abnormalities : Cerebellum, Optic Nerve, Retina, Retinal Vessels.
- diagnosis : Cerebellar Diseases, Eye Abnormalities, Kidney Diseases, Cystic, Lymphedema, Malformations of Cortical Development, Microcephaly, Retinal Dysplasia.
- genetics : Cerebellar Diseases, Eye Abnormalities, Kidney Diseases, Cystic, Lymphedema, Malformations of Cortical Development, Microcephaly, Retinal Dysplasia.
- Abnormalities, Multiple, Facies, Female, Gestational Age, Humans, Infant, Newborn, Magnetic Resonance Imaging.
Abstract
Microcephaly-lymphedema-chorioretinal dysplasia (OMIM 152950) is a rare malformative inherited disorder that can be associated with other systemic features. Other ocular and brain anomalies rather than microcephaly and chorioretinal dysplasia have been inconstantly reported in this syndrome.
DOI: 10.3109/13816810.2011.626012
PubMed: 22420539
Links to Exploration step
pubmed:22420539Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Microcephaly-lymphedema-chorioretinal dysplasia associated with pachymicrogyria and atrophy of the cerebellar vermis: an integration of brain-ocular migration disorders.</title><author><name sortKey="Pastora, Natalia" sort="Pastora, Natalia" uniqKey="Pastora N" first="Natalia" last="Pastora">Natalia Pastora</name><affiliation><nlm:affiliation>Hospital Universitario La Paz, Pediatric Ophthalmology, Madrid, Spain. personatality@yahoo.es</nlm:affiliation></affiliation></author><author><name sortKey="Peralta, Jesus" sort="Peralta, Jesus" uniqKey="Peralta J" first="Jesus" last="Peralta">Jesus Peralta</name></author><author><name sortKey="Canal Fontcuberta, Irene" sort="Canal Fontcuberta, Irene" uniqKey="Canal Fontcuberta I" first="Irene" last="Canal-Fontcuberta">Irene Canal-Fontcuberta</name></author><author><name sortKey="Grabowska, Anna" sort="Grabowska, Anna" uniqKey="Grabowska A" first="Anna" last="Grabowska">Anna Grabowska</name></author><author><name sortKey="Pulido, Jose S" sort="Pulido, Jose S" uniqKey="Pulido J" first="Jose S" last="Pulido">Jose S. Pulido</name></author><author><name sortKey="Abelairas, Jose" sort="Abelairas, Jose" uniqKey="Abelairas J" first="Jose" last="Abelairas">Jose Abelairas</name></author><author><name sortKey="Armada, Felix" sort="Armada, Felix" uniqKey="Armada F" first="Felix" last="Armada">Felix Armada</name></author><author><name sortKey="Garcia Alix, Alfredo" sort="Garcia Alix, Alfredo" uniqKey="Garcia Alix A" first="Alfredo" last="Garcia-Alix">Alfredo Garcia-Alix</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2012">2012</date><idno type="RBID">pubmed:22420539</idno><idno type="pmid">22420539</idno><idno type="doi">10.3109/13816810.2011.626012</idno><idno type="wicri:Area/PubMed/Corpus">002222</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">002222</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Microcephaly-lymphedema-chorioretinal dysplasia associated with pachymicrogyria and atrophy of the cerebellar vermis: an integration of brain-ocular migration disorders.</title><author><name sortKey="Pastora, Natalia" sort="Pastora, Natalia" uniqKey="Pastora N" first="Natalia" last="Pastora">Natalia Pastora</name><affiliation><nlm:affiliation>Hospital Universitario La Paz, Pediatric Ophthalmology, Madrid, Spain. personatality@yahoo.es</nlm:affiliation></affiliation></author><author><name sortKey="Peralta, Jesus" sort="Peralta, Jesus" uniqKey="Peralta J" first="Jesus" last="Peralta">Jesus Peralta</name></author><author><name sortKey="Canal Fontcuberta, Irene" sort="Canal Fontcuberta, Irene" uniqKey="Canal Fontcuberta I" first="Irene" last="Canal-Fontcuberta">Irene Canal-Fontcuberta</name></author><author><name sortKey="Grabowska, Anna" sort="Grabowska, Anna" uniqKey="Grabowska A" first="Anna" last="Grabowska">Anna Grabowska</name></author><author><name sortKey="Pulido, Jose S" sort="Pulido, Jose S" uniqKey="Pulido J" first="Jose S" last="Pulido">Jose S. Pulido</name></author><author><name sortKey="Abelairas, Jose" sort="Abelairas, Jose" uniqKey="Abelairas J" first="Jose" last="Abelairas">Jose Abelairas</name></author><author><name sortKey="Armada, Felix" sort="Armada, Felix" uniqKey="Armada F" first="Felix" last="Armada">Felix Armada</name></author><author><name sortKey="Garcia Alix, Alfredo" sort="Garcia Alix, Alfredo" uniqKey="Garcia Alix A" first="Alfredo" last="Garcia-Alix">Alfredo Garcia-Alix</name></author></analytic><series><title level="j">Ophthalmic genetics</title><idno type="eISSN">1744-5094</idno><imprint><date when="2012" type="published">2012</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Abnormalities, Multiple</term><term>Cerebellar Diseases (diagnosis)</term><term>Cerebellar Diseases (genetics)</term><term>Cerebellum (abnormalities)</term><term>Eye Abnormalities (diagnosis)</term><term>Eye Abnormalities (genetics)</term><term>Facies</term><term>Female</term><term>Gestational Age</term><term>Humans</term><term>Infant, Newborn</term><term>Kidney Diseases, Cystic (diagnosis)</term><term>Kidney Diseases, Cystic (genetics)</term><term>Lymphedema (diagnosis)</term><term>Lymphedema (genetics)</term><term>Magnetic Resonance Imaging</term><term>Malformations of Cortical Development (diagnosis)</term><term>Malformations of Cortical Development (genetics)</term><term>Microcephaly (diagnosis)</term><term>Microcephaly (genetics)</term><term>Optic Nerve (abnormalities)</term><term>Retina (abnormalities)</term><term>Retinal Dysplasia (diagnosis)</term><term>Retinal Dysplasia (genetics)</term><term>Retinal Vessels (abnormalities)</term></keywords><keywords scheme="MESH" qualifier="abnormalities" xml:lang="en"><term>Cerebellum</term><term>Optic Nerve</term><term>Retina</term><term>Retinal Vessels</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Cerebellar Diseases</term><term>Eye Abnormalities</term><term>Kidney Diseases, Cystic</term><term>Lymphedema</term><term>Malformations of Cortical Development</term><term>Microcephaly</term><term>Retinal Dysplasia</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Cerebellar Diseases</term><term>Eye Abnormalities</term><term>Kidney Diseases, Cystic</term><term>Lymphedema</term><term>Malformations of Cortical Development</term><term>Microcephaly</term><term>Retinal Dysplasia</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Abnormalities, Multiple</term><term>Facies</term><term>Female</term><term>Gestational Age</term><term>Humans</term><term>Infant, Newborn</term><term>Magnetic Resonance Imaging</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Microcephaly-lymphedema-chorioretinal dysplasia (OMIM 152950) is a rare malformative inherited disorder that can be associated with other systemic features. Other ocular and brain anomalies rather than microcephaly and chorioretinal dysplasia have been inconstantly reported in this syndrome.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">22420539</PMID><DateCreated><Year>2012</Year><Month>07</Month><Day>03</Day></DateCreated><DateCompleted><Year>2012</Year><Month>09</Month><Day>26</Day></DateCompleted><DateRevised><Year>2015</Year><Month>11</Month><Day>19</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1744-5094</ISSN><JournalIssue CitedMedium="Internet"><Volume>33</Volume><Issue>2</Issue><PubDate><Year>2012</Year><Month>Jun</Month></PubDate></JournalIssue><Title>Ophthalmic genetics</Title><ISOAbbreviation>Ophthalmic Genet.</ISOAbbreviation></Journal><ArticleTitle>Microcephaly-lymphedema-chorioretinal dysplasia associated with pachymicrogyria and atrophy of the cerebellar vermis: an integration of brain-ocular migration disorders.</ArticleTitle><Pagination><MedlinePgn>116-8</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.3109/13816810.2011.626012</ELocationID><Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Microcephaly-lymphedema-chorioretinal dysplasia (OMIM 152950) is a rare malformative inherited disorder that can be associated with other systemic features. Other ocular and brain anomalies rather than microcephaly and chorioretinal dysplasia have been inconstantly reported in this syndrome.</AbstractText><AbstractText Label="METHODS" NlmCategory="METHODS">We present a case of microcephaly-lymphedema-chorioretinal dysplasia with a dysmorphic facies, hypertonicity in the extremities and neuropsychomotor delay. Ophthalmological examination revealed bilateral nystagmus, microphthalmia, posterior subcapsular cataratacts, extensive chorioretinal dysplasia, optic nerve aplasia, persistent fetal vasculature, and absent retinal vessels.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">Magnetic resonance revealed pachymicrogyria and discrete atrophy of vermis cerebelosum and confirmed optic nerve hypoplasia.</AbstractText><AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">The developmental alterations observed in the retina of this patient could be analogous to central nervous system anomalies, reflecting a reduction in neural population. Ophthalmic examination of children with microcephaly is warranted.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Pastora</LastName><ForeName>Natalia</ForeName><Initials>N</Initials><AffiliationInfo><Affiliation>Hospital Universitario La Paz, Pediatric Ophthalmology, Madrid, Spain. personatality@yahoo.es</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Peralta</LastName><ForeName>Jesus</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Canal-Fontcuberta</LastName><ForeName>Irene</ForeName><Initials>I</Initials></Author><Author ValidYN="Y"><LastName>Grabowska</LastName><ForeName>Anna</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Pulido</LastName><ForeName>Jose S</ForeName><Initials>JS</Initials></Author><Author ValidYN="Y"><LastName>Abelairas</LastName><ForeName>Jose</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Armada</LastName><ForeName>Felix</ForeName><Initials>F</Initials></Author><Author ValidYN="Y"><LastName>Garcia-Alix</LastName><ForeName>Alfredo</ForeName><Initials>A</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2012</Year><Month>03</Month><Day>15</Day></ArticleDate></Article><MedlineJournalInfo><Country>England</Country><MedlineTA>Ophthalmic Genet</MedlineTA><NlmUniqueID>9436057</NlmUniqueID><ISSNLinking>1381-6810</ISSNLinking></MedlineJournalInfo><SupplMeshList><SupplMeshName Type="Disease" UI="C536293">Joubert syndrome 1</SupplMeshName><SupplMeshName Type="Disease" UI="C537711">Lymphedema, microcephaly and chorioretinopathy syndrome</SupplMeshName></SupplMeshList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D000015" MajorTopicYN="Y">Abnormalities, Multiple</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002526" MajorTopicYN="N">Cerebellar Diseases</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D002531" MajorTopicYN="N">Cerebellum</DescriptorName><QualifierName UI="Q000002" MajorTopicYN="N">abnormalities</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D005124" MajorTopicYN="N">Eye Abnormalities</DescriptorName><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="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="D052177" MajorTopicYN="N">Kidney Diseases, Cystic</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="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008279" MajorTopicYN="N">Magnetic Resonance Imaging</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D054220" MajorTopicYN="N">Malformations of Cortical Development</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008831" MajorTopicYN="N">Microcephaly</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D009900" MajorTopicYN="N">Optic Nerve</DescriptorName><QualifierName UI="Q000002" MajorTopicYN="Y">abnormalities</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D012160" MajorTopicYN="N">Retina</DescriptorName><QualifierName UI="Q000002" MajorTopicYN="N">abnormalities</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D015792" MajorTopicYN="N">Retinal Dysplasia</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D012171" MajorTopicYN="N">Retinal Vessels</DescriptorName><QualifierName UI="Q000002" MajorTopicYN="N">abnormalities</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="entrez"><Year>2012</Year><Month>3</Month><Day>17</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2012</Year><Month>3</Month><Day>17</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2012</Year><Month>9</Month><Day>27</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">22420539</ArticleId><ArticleId IdType="doi">10.3109/13816810.2011.626012</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/PubMed/Corpus
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 002222 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/PubMed/Corpus/biblio.hfd -nk 002222 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Sante
|area= LymphedemaV1
|flux= PubMed
|étape= Corpus
|type= RBID
|clé= pubmed:22420539
|texte= Microcephaly-lymphedema-chorioretinal dysplasia associated with pachymicrogyria and atrophy of the cerebellar vermis: an integration of brain-ocular migration disorders.
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/PubMed/Corpus/RBID.i -Sk "pubmed:22420539" \
| HfdSelect -Kh $EXPLOR_AREA/Data/PubMed/Corpus/biblio.hfd \
| NlmPubMed2Wicri -a LymphedemaV1
| This area was generated with Dilib version V0.6.31. |  |