Adams–Oliver syndrome in siblings with central nervous system findings, epilepsy, and developmental delay: Refining the features of a severe autosomal recessive variant
Identifieur interne : 006F29 ( Main/Exploration ); précédent : 006F28; suivant : 006F30Adams–Oliver syndrome in siblings with central nervous system findings, epilepsy, and developmental delay: Refining the features of a severe autosomal recessive variant
Auteurs : Robin R. Mcgoey [États-Unis] ; Yves Lacassie [États-Unis]Source :
- American Journal of Medical Genetics Part A [ 1552-4825 ] ; 2008-02-15.
Abstract
Adams–Oliver syndrome (AOS) is a well‐known rare syndrome of cutis aplasia in combination with limb defects. Recent reports have been published discussing the clinical variability and apparent genetic heterogeneity seen in some affected individuals and families with particular attention made to the possible existence of an autosomal recessive variant of AOS. We report on sisters as the ninth report of such an autosomal recessive‐variant and review previously published similar sibships for observed comparisons relative to clinical features. Review of these cases is initially suggestive of an increased frequency of both central nervous system involvement as well as epilepsy in the autosomal recessive variant of AOS. Full case reports and a review of neurological involvement in the autosomal recessive AOS cases are presented. © 2008 Wiley‐Liss, Inc.
Url:
DOI: 10.1002/ajmg.a.32163
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: 002962
- to stream Istex, to step Curation: 002962
- to stream Istex, to step Checkpoint: 001188
- to stream Main, to step Merge: 007038
- to stream Main, to step Curation: 006F29
Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Adams–Oliver syndrome in siblings with central nervous system findings, epilepsy, and developmental delay: Refining the features of a severe autosomal recessive variant</title><author><name sortKey="Mcgoey, Robin R" sort="Mcgoey, Robin R" uniqKey="Mcgoey R" first="Robin R." last="Mcgoey">Robin R. Mcgoey</name></author><author><name sortKey="Lacassie, Yves" sort="Lacassie, Yves" uniqKey="Lacassie Y" first="Yves" last="Lacassie">Yves Lacassie</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:59C67AC782D3809693A73DA284AF3D4411FAE771</idno><date when="2008" year="2008">2008</date><idno type="doi">10.1002/ajmg.a.32163</idno><idno type="url">https://api.istex.fr/document/59C67AC782D3809693A73DA284AF3D4411FAE771/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">002962</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">002962</idno><idno type="wicri:Area/Istex/Curation">002962</idno><idno type="wicri:Area/Istex/Checkpoint">001188</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Checkpoint">001188</idno><idno type="wicri:doubleKey">1552-4825:2008:Mcgoey R:adams:oliver:syndrome</idno><idno type="wicri:Area/Main/Merge">007038</idno><idno type="wicri:Area/Main/Curation">006F29</idno><idno type="wicri:Area/Main/Exploration">006F29</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Adams–Oliver syndrome in siblings with central nervous system findings, epilepsy, and developmental delay: Refining the features of a severe autosomal recessive variant<ref type="note" target="#fn1"></ref></title><author><name sortKey="Mcgoey, Robin R" sort="Mcgoey, Robin R" uniqKey="Mcgoey R" first="Robin R." last="Mcgoey">Robin R. Mcgoey</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Louisiane</region></placeName><wicri:cityArea>Department of Pathology, Louisiana State University Health Science Center, New Orleans</wicri:cityArea></affiliation><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Louisiane</region></placeName><wicri:cityArea>Department of Pediatrics, Division of Genetics, Children's Hospital of New Orleans, New Orleans</wicri:cityArea></affiliation></author><author><name sortKey="Lacassie, Yves" sort="Lacassie, Yves" uniqKey="Lacassie Y" first="Yves" last="Lacassie">Yves Lacassie</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Louisiane</region></placeName><wicri:cityArea>Department of Pediatrics, Division of Genetics, Children's Hospital of New Orleans, New Orleans</wicri:cityArea></affiliation><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Louisiane</region></placeName><wicri:cityArea>Department of Pediatrics, Louisiana State University Health Science Center, New Orleans</wicri:cityArea></affiliation><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Louisiane</region></placeName><wicri:cityArea>Division of Genetics, Department of Pediatrics, Louisiana State University Health Science Center, New Orleans and Children's Hospital of New Orleans, 200 Henry Clay Avenue, New Orleans</wicri:cityArea></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">American Journal of Medical Genetics Part A</title><title level="j" type="alt">AMERICAN JOURNAL OF MEDICAL GENETICS</title><idno type="ISSN">1552-4825</idno><idno type="eISSN">1552-4833</idno><imprint><biblScope unit="vol">146A</biblScope><biblScope unit="issue">4</biblScope><biblScope unit="page" from="488">488</biblScope><biblScope unit="page" to="491">491</biblScope><biblScope unit="page-count">4</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2008-02-15">2008-02-15</date></imprint><idno type="ISSN">1552-4825</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1552-4825</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Adams–Oliver syndrome (AOS) is a well‐known rare syndrome of cutis aplasia in combination with limb defects. Recent reports have been published discussing the clinical variability and apparent genetic heterogeneity seen in some affected individuals and families with particular attention made to the possible existence of an autosomal recessive variant of AOS. We report on sisters as the ninth report of such an autosomal recessive‐variant and review previously published similar sibships for observed comparisons relative to clinical features. Review of these cases is initially suggestive of an increased frequency of both central nervous system involvement as well as epilepsy in the autosomal recessive variant of AOS. Full case reports and a review of neurological involvement in the autosomal recessive AOS cases are presented. © 2008 Wiley‐Liss, Inc.</div></front></TEI><affiliations><list><country><li>États-Unis</li></country><region><li>Louisiane</li></region></list><tree><country name="États-Unis"><region name="Louisiane"><name sortKey="Mcgoey, Robin R" sort="Mcgoey, Robin R" uniqKey="Mcgoey R" first="Robin R." last="Mcgoey">Robin R. Mcgoey</name></region><name sortKey="Lacassie, Yves" sort="Lacassie, Yves" uniqKey="Lacassie Y" first="Yves" last="Lacassie">Yves Lacassie</name><name sortKey="Lacassie, Yves" sort="Lacassie, Yves" uniqKey="Lacassie Y" first="Yves" last="Lacassie">Yves Lacassie</name><name sortKey="Lacassie, Yves" sort="Lacassie, Yves" uniqKey="Lacassie Y" first="Yves" last="Lacassie">Yves Lacassie</name><name sortKey="Mcgoey, Robin R" sort="Mcgoey, Robin R" uniqKey="Mcgoey R" first="Robin R." last="Mcgoey">Robin R. Mcgoey</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 006F29 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 006F29 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Sante
|area= LymphedemaV1
|flux= Main
|étape= Exploration
|type= RBID
|clé= ISTEX:59C67AC782D3809693A73DA284AF3D4411FAE771
|texte= Adams–Oliver syndrome in siblings with central nervous system findings, epilepsy, and developmental delay: Refining the features of a severe autosomal recessive variant
}}
| This area was generated with Dilib version V0.6.31. |  |