Fetal pads as a clue to the diagnosis of Pitt–Hopkins syndrome
Identifieur interne : 001850 ( Main/Exploration ); précédent : 001849; suivant : 001851Fetal pads as a clue to the diagnosis of Pitt–Hopkins syndrome
Auteurs : Daphne Lehalle [Royaume-Uni, France] ; Charles Williams [États-Unis] ; Victoria Mok Siu [Canada] ; Jill Clayton-Smith [Royaume-Uni]Source :
- American Journal of Medical Genetics Part A [ 1552-4825 ] ; 2011-07.
English descriptors
- KwdEn :
Abstract
Pitt–Hopkins syndrome (PHS) is characterized by severe mental retardation, characteristic facial features including a wide mouth and intermittent overbreathing. It is due to abnormalities of the TCF4 gene at 18q21.1 and over 50 cases have now been reported in the literature. The clinical features overlap significantly with those of Angelman, Rett, and Mowat–Wilson syndromes. We have observed prominent fetal pads as a feature in several individuals with PHS and suggested that this is a useful clinical sign which helps to distinguish PHS from other conditions in the differential diagnosis and may guide genetic testing. © 2011 Wiley‐Liss, Inc.
Url:
DOI: 10.1002/ajmg.a.34055
Affiliations:
- Canada, France, Royaume-Uni, États-Unis
- Angleterre, Floride, Grand Manchester, Île-de-France
- Manchester, Paris
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: 002147
- to stream Istex, to step Curation: 002147
- to stream Istex, to step Checkpoint: 000435
- to stream Main, to step Merge: 001928
- to stream Main, to step Curation: 001850
Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Fetal pads as a clue to the diagnosis of Pitt–Hopkins syndrome</title><author><name sortKey="Lehalle, Daphne" sort="Lehalle, Daphne" uniqKey="Lehalle D" first="Daphne" last="Lehalle">Daphne Lehalle</name></author><author><name sortKey="Williams, Charles" sort="Williams, Charles" uniqKey="Williams C" first="Charles" last="Williams">Charles Williams</name></author><author><name sortKey="Siu, Victoria Mok" sort="Siu, Victoria Mok" uniqKey="Siu V" first="Victoria Mok" last="Siu">Victoria Mok Siu</name></author><author><name sortKey="Clayton Mith, Jill" sort="Clayton Mith, Jill" uniqKey="Clayton Mith J" first="Jill" last="Clayton-Smith">Jill Clayton-Smith</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:99611C1F15D5C48AAD7CFDE4B005FA385910B899</idno><date when="2011" year="2011">2011</date><idno type="doi">10.1002/ajmg.a.34055</idno><idno type="url">https://api-v5.istex.fr/document/99611C1F15D5C48AAD7CFDE4B005FA385910B899/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">002147</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">002147</idno><idno type="wicri:Area/Istex/Curation">002147</idno><idno type="wicri:Area/Istex/Checkpoint">000435</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Checkpoint">000435</idno><idno type="wicri:doubleKey">1552-4825:2011:Lehalle D:fetal:pads:as</idno><idno type="wicri:Area/Main/Merge">001928</idno><idno type="wicri:Area/Main/Curation">001850</idno><idno type="wicri:Area/Main/Exploration">001850</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Fetal pads as a clue to the diagnosis of Pitt–Hopkins syndrome</title><author><name sortKey="Lehalle, Daphne" sort="Lehalle, Daphne" uniqKey="Lehalle D" first="Daphne" last="Lehalle">Daphne Lehalle</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Manchester Biomedical Research Centre, MAHSC, St Mary's Hospital, Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Manchester</region></placeName></affiliation><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Département de génétique, Hôpital Necker Enfants Malades, APHP, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Hôpital Necker, Département de génétique, 149 rue de Sèvres, Paris 75015</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Williams, Charles" sort="Williams, Charles" uniqKey="Williams C" first="Charles" last="Williams">Charles Williams</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Floride</region></placeName><wicri:cityArea>Division of Genetics and Metabolism, Raymond Philips Unit, University of Florida College of Medicine, Gainesville</wicri:cityArea></affiliation></author><author><name sortKey="Siu, Victoria Mok" sort="Siu, Victoria Mok" uniqKey="Siu V" first="Victoria Mok" last="Siu">Victoria Mok Siu</name><affiliation wicri:level="1"><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Pediatrics, University of Western Ontario, London, Ontario</wicri:regionArea><wicri:noRegion>Ontario</wicri:noRegion></affiliation></author><author><name sortKey="Clayton Mith, Jill" sort="Clayton Mith, Jill" uniqKey="Clayton Mith J" first="Jill" last="Clayton-Smith">Jill Clayton-Smith</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Manchester Biomedical Research Centre, MAHSC, St Mary's Hospital, Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Manchester</region></placeName></affiliation></author></analytic><monogr></monogr><series><title level="j">American Journal of Medical Genetics Part A</title><title level="j" type="abbrev">Am. J. Med. Genet.</title><idno type="ISSN">1552-4825</idno><idno type="eISSN">1552-4833</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2011-07">2011-07</date><biblScope unit="volume">155</biblScope><biblScope unit="issue">7</biblScope><biblScope unit="page" from="1685">1685</biblScope><biblScope unit="page" to="1689">1689</biblScope></imprint><idno type="ISSN">1552-4825</idno></series><idno type="istex">99611C1F15D5C48AAD7CFDE4B005FA385910B899</idno><idno type="DOI">10.1002/ajmg.a.34055</idno><idno type="ArticleID">AJMG34055</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1552-4825</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Pitt–Hopkins syndrome</term><term>fetal pads</term><term>volar pads</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Pitt–Hopkins syndrome (PHS) is characterized by severe mental retardation, characteristic facial features including a wide mouth and intermittent overbreathing. It is due to abnormalities of the TCF4 gene at 18q21.1 and over 50 cases have now been reported in the literature. The clinical features overlap significantly with those of Angelman, Rett, and Mowat–Wilson syndromes. We have observed prominent fetal pads as a feature in several individuals with PHS and suggested that this is a useful clinical sign which helps to distinguish PHS from other conditions in the differential diagnosis and may guide genetic testing. © 2011 Wiley‐Liss, Inc.</div></front></TEI><affiliations><list><country><li>Canada</li><li>France</li><li>Royaume-Uni</li><li>États-Unis</li></country><region><li>Angleterre</li><li>Floride</li><li>Grand Manchester</li><li>Île-de-France</li></region><settlement><li>Manchester</li><li>Paris</li></settlement></list><tree><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Lehalle, Daphne" sort="Lehalle, Daphne" uniqKey="Lehalle D" first="Daphne" last="Lehalle">Daphne Lehalle</name></region><name sortKey="Clayton Mith, Jill" sort="Clayton Mith, Jill" uniqKey="Clayton Mith J" first="Jill" last="Clayton-Smith">Jill Clayton-Smith</name></country><country name="France"><region name="Île-de-France"><name sortKey="Lehalle, Daphne" sort="Lehalle, Daphne" uniqKey="Lehalle D" first="Daphne" last="Lehalle">Daphne Lehalle</name></region><name sortKey="Lehalle, Daphne" sort="Lehalle, Daphne" uniqKey="Lehalle D" first="Daphne" last="Lehalle">Daphne Lehalle</name></country><country name="États-Unis"><region name="Floride"><name sortKey="Williams, Charles" sort="Williams, Charles" uniqKey="Williams C" first="Charles" last="Williams">Charles Williams</name></region></country><country name="Canada"><noRegion><name sortKey="Siu, Victoria Mok" sort="Siu, Victoria Mok" uniqKey="Siu V" first="Victoria Mok" last="Siu">Victoria Mok Siu</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Canada/explor/ParkinsonCanadaV1/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001850 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 001850 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Canada
|area= ParkinsonCanadaV1
|flux= Main
|étape= Exploration
|type= RBID
|clé= ISTEX:99611C1F15D5C48AAD7CFDE4B005FA385910B899
|texte= Fetal pads as a clue to the diagnosis of Pitt–Hopkins syndrome
}}
| This area was generated with Dilib version V0.6.29. |  |