Frontonasal dysplasia, severe neuropsychological delay, and midline central nervous system anomalies: Report of 10 Brazilian male patients
Identifieur interne : 006654 ( Main/Exploration ); précédent : 006653; suivant : 006655Frontonasal dysplasia, severe neuropsychological delay, and midline central nervous system anomalies: Report of 10 Brazilian male patients
Auteurs : Maria Leine Guion-Almeida [Brésil] ; Antonio Richieri-Costa [Brésil]Source :
- American Journal of Medical Genetics Part A [ 1552-4825 ] ; 2009-05.
Abstract
Here we report on 10 male patients with frontonasal dysplasia, cleft lip/palate, mental retardation, lack of language acquisition, and severe central nervous system involvement. Imaging studies disclosed absence of the corpus callosum, midline cysts, and an abnormally modeled cerebellum. Neuronal heterotopias were present in five patients and parieto‐occipital encephalocele in three patients. We suggest that this pattern found exclusively in males, most likely represents a newly recognized syndrome distilled from the group of disorders subsumed under frontonasal dysplasia. © 2009 Wiley‐Liss, Inc.
Url:
DOI: 10.1002/ajmg.a.32717
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: 000540
- to stream Istex, to step Curation: 000540
- to stream Istex, to step Checkpoint: 000D94
- to stream Main, to step Merge: 006732
- to stream Main, to step Curation: 006654
Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Frontonasal dysplasia, severe neuropsychological delay, and midline central nervous system anomalies: Report of 10 Brazilian male patients</title><author><name sortKey="Guion Lmeida, Maria Leine" sort="Guion Lmeida, Maria Leine" uniqKey="Guion Lmeida M" first="Maria Leine" last="Guion-Almeida">Maria Leine Guion-Almeida</name></author><author><name sortKey="Richieri Osta, Antonio" sort="Richieri Osta, Antonio" uniqKey="Richieri Osta A" first="Antonio" last="Richieri-Costa">Antonio Richieri-Costa</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:0BAE3608D11C0A4043F881DF3D4EB0ED44953403</idno><date when="2009" year="2009">2009</date><idno type="doi">10.1002/ajmg.a.32717</idno><idno type="url">https://api.istex.fr/document/0BAE3608D11C0A4043F881DF3D4EB0ED44953403/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">000540</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">000540</idno><idno type="wicri:Area/Istex/Curation">000540</idno><idno type="wicri:Area/Istex/Checkpoint">000D94</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Checkpoint">000D94</idno><idno type="wicri:doubleKey">1552-4825:2009:Guion Lmeida M:frontonasal:dysplasia:severe</idno><idno type="wicri:Area/Main/Merge">006732</idno><idno type="wicri:Area/Main/Curation">006654</idno><idno type="wicri:Area/Main/Exploration">006654</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Frontonasal dysplasia, severe neuropsychological delay, and midline central nervous system anomalies: Report of 10 Brazilian male patients<ref type="note" target="#fn1"></ref></title><author><name sortKey="Guion Lmeida, Maria Leine" sort="Guion Lmeida, Maria Leine" uniqKey="Guion Lmeida M" first="Maria Leine" last="Guion-Almeida">Maria Leine Guion-Almeida</name><affiliation wicri:level="4"><country xml:lang="fr">Brésil</country><wicri:regionArea>Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies (HRAC), University of São Paulo, Bauru, SP</wicri:regionArea><placeName><region type="state">État de São Paulo</region><settlement type="city">São Paulo</settlement></placeName><orgName type="university">Université de São Paulo</orgName></affiliation><affiliation wicri:level="4"><country xml:lang="fr">Brésil</country><wicri:regionArea>Hospital of Rehabilitation of Craniofacial Anomalies (HRAC), University of São Paulo, Rua Silvio Marchione 3‐20, CEP 17012‐900, Bauru, SP</wicri:regionArea><placeName><region type="state">État de São Paulo</region><settlement type="city">São Paulo</settlement></placeName><orgName type="university">Université de São Paulo</orgName></affiliation></author><author><name sortKey="Richieri Osta, Antonio" sort="Richieri Osta, Antonio" uniqKey="Richieri Osta A" first="Antonio" last="Richieri-Costa">Antonio Richieri-Costa</name><affiliation wicri:level="4"><country xml:lang="fr">Brésil</country><wicri:regionArea>Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies (HRAC), University of São Paulo, Bauru, SP</wicri:regionArea><placeName><region type="state">État de São Paulo</region><settlement type="city">São Paulo</settlement></placeName><orgName type="university">Université de São Paulo</orgName></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">149A</biblScope><biblScope unit="issue">5</biblScope><biblScope unit="page" from="1006">1006</biblScope><biblScope unit="page" to="1011">1011</biblScope><biblScope unit="page-count">6</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2009-05">2009-05</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">Here we report on 10 male patients with frontonasal dysplasia, cleft lip/palate, mental retardation, lack of language acquisition, and severe central nervous system involvement. Imaging studies disclosed absence of the corpus callosum, midline cysts, and an abnormally modeled cerebellum. Neuronal heterotopias were present in five patients and parieto‐occipital encephalocele in three patients. We suggest that this pattern found exclusively in males, most likely represents a newly recognized syndrome distilled from the group of disorders subsumed under frontonasal dysplasia. © 2009 Wiley‐Liss, Inc.</div></front></TEI><affiliations><list><country><li>Brésil</li></country><region><li>État de São Paulo</li></region><settlement><li>São Paulo</li></settlement><orgName><li>Université de São Paulo</li></orgName></list><tree><country name="Brésil"><region name="État de São Paulo"><name sortKey="Guion Lmeida, Maria Leine" sort="Guion Lmeida, Maria Leine" uniqKey="Guion Lmeida M" first="Maria Leine" last="Guion-Almeida">Maria Leine Guion-Almeida</name></region><name sortKey="Guion Lmeida, Maria Leine" sort="Guion Lmeida, Maria Leine" uniqKey="Guion Lmeida M" first="Maria Leine" last="Guion-Almeida">Maria Leine Guion-Almeida</name><name sortKey="Richieri Osta, Antonio" sort="Richieri Osta, Antonio" uniqKey="Richieri Osta A" first="Antonio" last="Richieri-Costa">Antonio Richieri-Costa</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 006654 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 006654 | 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:0BAE3608D11C0A4043F881DF3D4EB0ED44953403
|texte= Frontonasal dysplasia, severe neuropsychological delay, and midline central nervous system anomalies: Report of 10 Brazilian male patients
}}
| This area was generated with Dilib version V0.6.31. |  |