Phenotype and natural history in Marshall–Smith syndrome
Identifieur interne : 000F26 ( Main/Exploration ); précédent : 000F25; suivant : 000F27Phenotype and natural history in Marshall–Smith syndrome
Auteurs : Adam C. Shaw [Royaume-Uni] ; Inge D. C. Van Balkom [Pays-Bas] ; Mislen Bauer [États-Unis] ; Trevor R. P. Cole [Royaume-Uni] ; Marie-Ange Delrue [France] ; Arie Van Haeringen [Pays-Bas] ; Eva Holmberg [Norvège] ; Samantha J. L. Knight [Royaume-Uni] ; Geert Mortier [Belgique] ; Sheela Nampoothiri [Inde] ; Silvija Pušelji [Croatie] ; Martin Zenker [Allemagne] ; Valerie Cormier-Daire [France] ; Raoul C. M. Hennekam [Pays-Bas]Source :
- American Journal of Medical Genetics Part A [ 1552-4825 ] ; 2010-11.
English descriptors
- KwdEn :
Abstract
Marshall–Smith syndrome (MSS) is a distinctive entity of unknown etiology with fewer than 50 patients described in the medical literature to date. Through an International collaboration and use of an online wiki to facilitate data collection and sharing, we further delineate the phenotype and natural history of this syndrome. We present 15 new patients, the oldest being 30 years, provide an update on four previously published cases, and compare all patients with other patients reported in literature. Main clinical features are moderate to severe developmental delay with absent or limited speech, unusual behavior, dysharmonic bone maturation, respiratory compromise secondary to upper airway obstruction, short stature, and kyphoscoliosis. Facial features are characteristic with high forehead, underdeveloped midface, proptosis, anteverted nares, and everted lips. Minor abnormalities of brain morphology such as hypoplasia of the corpus callosum are common. Mortality from respiratory complications is high, but airway support increasingly allows survival into adulthood. Array‐CGH was performed on 12 of the cohort and no copy number variants of clear clinical relevance were identified. The present study is the first reported use of an online wiki to aid delineation of a genetic syndrome, and illustrates its value in collecting detailed data in rare conditions. © 2010 Wiley‐Liss, Inc.
Url:
DOI: 10.1002/ajmg.a.33709
Affiliations:
- Allemagne, Belgique, Croatie, France, Inde, Norvège, Pays-Bas, Royaume-Uni, États-Unis
- Angleterre, Floride, Grand Londres, Groningue (province), Hollande-Méridionale, Hollande-Septentrionale, Midlands de l'Ouest, Oxfordshire, Saxe-Anhalt
- Amsterdam, Birmingham, Bordeaux, Groningue, Leyde, Londres, Magdebourg, Oxford, Paris
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: 001293
- to stream Istex, to step Curation: 001269
- to stream Istex, to step Checkpoint: 000A50
- to stream Main, to step Merge: 000F28
- to stream Main, to step Curation: 000F26
Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Phenotype and natural history in Marshall–Smith syndrome</title><author><name sortKey="Shaw, Adam C" sort="Shaw, Adam C" uniqKey="Shaw A" first="Adam C." last="Shaw">Adam C. Shaw</name></author><author><name sortKey="Van Balkom, Inge D C" sort="Van Balkom, Inge D C" uniqKey="Van Balkom I" first="Inge D. C." last="Van Balkom">Inge D. C. Van Balkom</name></author><author><name sortKey="Bauer, Mislen" sort="Bauer, Mislen" uniqKey="Bauer M" first="Mislen" last="Bauer">Mislen Bauer</name></author><author><name sortKey="Cole, Trevor R P" sort="Cole, Trevor R P" uniqKey="Cole T" first="Trevor R. P." last="Cole">Trevor R. P. Cole</name></author><author><name sortKey="Delrue, Marie Nge" sort="Delrue, Marie Nge" uniqKey="Delrue M" first="Marie-Ange" last="Delrue">Marie-Ange Delrue</name></author><author><name sortKey="Van Haeringen, Arie" sort="Van Haeringen, Arie" uniqKey="Van Haeringen A" first="Arie" last="Van Haeringen">Arie Van Haeringen</name></author><author><name sortKey="Holmberg, Eva" sort="Holmberg, Eva" uniqKey="Holmberg E" first="Eva" last="Holmberg">Eva Holmberg</name></author><author><name sortKey="Knight, Samantha J L" sort="Knight, Samantha J L" uniqKey="Knight S" first="Samantha J. L." last="Knight">Samantha J. L. Knight</name></author><author><name sortKey="Mortier, Geert" sort="Mortier, Geert" uniqKey="Mortier G" first="Geert" last="Mortier">Geert Mortier</name></author><author><name sortKey="Nampoothiri, Sheela" sort="Nampoothiri, Sheela" uniqKey="Nampoothiri S" first="Sheela" last="Nampoothiri">Sheela Nampoothiri</name></author><author><name sortKey="Puselji, Silvija" sort="Puselji, Silvija" uniqKey="Puselji S" first="Silvija" last="Pušelji">Silvija Pušelji</name></author><author><name sortKey="Zenker, Martin" sort="Zenker, Martin" uniqKey="Zenker M" first="Martin" last="Zenker">Martin Zenker</name></author><author><name sortKey="Cormier Aire, Valerie" sort="Cormier Aire, Valerie" uniqKey="Cormier Aire V" first="Valerie" last="Cormier-Daire">Valerie Cormier-Daire</name></author><author><name sortKey="Hennekam, Raoul C M" sort="Hennekam, Raoul C M" uniqKey="Hennekam R" first="Raoul C. M." last="Hennekam">Raoul C. M. Hennekam</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:4A603B76B6BA44BDB8BD5B4D6486E04DD277D6C0</idno><date when="2010" year="2010">2010</date><idno type="doi">10.1002/ajmg.a.33709</idno><idno type="url">https://api.istex.fr/document/4A603B76B6BA44BDB8BD5B4D6486E04DD277D6C0/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">001293</idno><idno type="wicri:Area/Istex/Curation">001269</idno><idno type="wicri:Area/Istex/Checkpoint">000A50</idno><idno type="wicri:doubleKey">1552-4825:2010:Shaw A:phenotype:and:natural</idno><idno type="wicri:Area/Main/Merge">000F28</idno><idno type="wicri:Area/Main/Curation">000F26</idno><idno type="wicri:Area/Main/Exploration">000F26</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Phenotype and natural history in Marshall–Smith syndrome</title><author><name sortKey="Shaw, Adam C" sort="Shaw, Adam C" uniqKey="Shaw A" first="Adam C." last="Shaw">Adam C. Shaw</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation><affiliation wicri:level="1"><country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country><wicri:regionArea>Clinical and Molecular Genetics Unit, UCL Institute of Child Health, 30 Guilford Street, London WC1N 1EH</wicri:regionArea><wicri:noRegion>London WC1N 1EH</wicri:noRegion></affiliation></author><author><name sortKey="Van Balkom, Inge D C" sort="Van Balkom, Inge D C" uniqKey="Van Balkom I" first="Inge D. C." last="Van Balkom">Inge D. C. Van Balkom</name><affiliation wicri:level="1"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Jonx Department of Youth Mental Health, Lentis Psychiatric Institute, Zuidlaren</wicri:regionArea><wicri:noRegion>Zuidlaren</wicri:noRegion></affiliation><affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Psychiatry, University Medical Center Groningen, Groningen</wicri:regionArea><placeName><settlement type="city">Groningue</settlement><region nuts="2" type="province">Groningue (province)</region></placeName></affiliation></author><author><name sortKey="Bauer, Mislen" sort="Bauer, Mislen" uniqKey="Bauer M" first="Mislen" last="Bauer">Mislen Bauer</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Floride</region></placeName><wicri:cityArea>Department of Clinical Genetics, Miami Children's Hospital, Miami</wicri:cityArea></affiliation></author><author><name sortKey="Cole, Trevor R P" sort="Cole, Trevor R P" uniqKey="Cole T" first="Trevor R. P." last="Cole">Trevor R. P. Cole</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Clinical Genetics Unit, Birmingham Women's Hospital, Birmingham</wicri:regionArea><placeName><settlement type="city">Birmingham</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Midlands de l'Ouest</region></placeName></affiliation></author><author><name sortKey="Delrue, Marie Nge" sort="Delrue, Marie Nge" uniqKey="Delrue M" first="Marie-Ange" last="Delrue">Marie-Ange Delrue</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Médicale, CHU de Bordeaux, Université Bordeaux 2, Bordeaux</wicri:regionArea><placeName><settlement type="city">Bordeaux</settlement></placeName></affiliation></author><author><name sortKey="Van Haeringen, Arie" sort="Van Haeringen, Arie" uniqKey="Van Haeringen A" first="Arie" last="Van Haeringen">Arie Van Haeringen</name><affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Clinical Genetics, LUMC, Leiden</wicri:regionArea><placeName><settlement type="city">Leyde</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Holmberg, Eva" sort="Holmberg, Eva" uniqKey="Holmberg E" first="Eva" last="Holmberg">Eva Holmberg</name><affiliation wicri:level="1"><country xml:lang="fr">Norvège</country><wicri:regionArea>Department of Medical Genetics, Rikshospitalet‐Radiumhospitalet Medical Center, Oslo</wicri:regionArea><wicri:noRegion>Oslo</wicri:noRegion></affiliation></author><author><name sortKey="Knight, Samantha J L" sort="Knight, Samantha J L" uniqKey="Knight S" first="Samantha J. L." last="Knight">Samantha J. L. Knight</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>NIHR Biomedical Research Centre, Oxford and Wellcome Trust Centre for Human Genetics, Oxford</wicri:regionArea><placeName><settlement type="city">Oxford</settlement><region type="country">Angleterre</region><region type="comté" nuts="2">Oxfordshire</region></placeName></affiliation></author><author><name sortKey="Mortier, Geert" sort="Mortier, Geert" uniqKey="Mortier G" first="Geert" last="Mortier">Geert Mortier</name><affiliation wicri:level="1"><country xml:lang="fr">Belgique</country><wicri:regionArea>Center for Medical Genetics, Antwerp University Hospital, Antwerp</wicri:regionArea><wicri:noRegion>Antwerp</wicri:noRegion></affiliation></author><author><name sortKey="Nampoothiri, Sheela" sort="Nampoothiri, Sheela" uniqKey="Nampoothiri S" first="Sheela" last="Nampoothiri">Sheela Nampoothiri</name><affiliation wicri:level="1"><country xml:lang="fr">Inde</country><wicri:regionArea>Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Center, Cochin, Kerala</wicri:regionArea><wicri:noRegion>Kerala</wicri:noRegion></affiliation></author><author><name sortKey="Puselji, Silvija" sort="Puselji, Silvija" uniqKey="Puselji S" first="Silvija" last="Pušelji">Silvija Pušelji</name><affiliation wicri:level="1"><country xml:lang="fr">Croatie</country><wicri:regionArea>Pediatrics Clinic, Clinical Hospital Centre Osijek, Osijek</wicri:regionArea><wicri:noRegion>Osijek</wicri:noRegion></affiliation></author><author><name sortKey="Zenker, Martin" sort="Zenker, Martin" uniqKey="Zenker M" first="Martin" last="Zenker">Martin Zenker</name><affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, University Hospital of Magdeburg, Magdeburg</wicri:regionArea><placeName><region type="land" nuts="2">Saxe-Anhalt</region><settlement type="city">Magdebourg</settlement></placeName></affiliation></author><author><name sortKey="Cormier Aire, Valerie" sort="Cormier Aire, Valerie" uniqKey="Cormier Aire V" first="Valerie" last="Cormier-Daire">Valerie Cormier-Daire</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Department of Genetics and INSERM, Hôpital Necker Enfants Malades, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Hennekam, Raoul C M" sort="Hennekam, Raoul C M" uniqKey="Hennekam R" first="Raoul C. M." last="Hennekam">Raoul C. M. Hennekam</name><affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</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="2010-11">2010-11</date><biblScope unit="volume">152A</biblScope><biblScope unit="issue">11</biblScope><biblScope unit="page" from="2714">2714</biblScope><biblScope unit="page" to="2726">2726</biblScope></imprint><idno type="ISSN">1552-4825</idno></series><idno type="istex">4A603B76B6BA44BDB8BD5B4D6486E04DD277D6C0</idno><idno type="DOI">10.1002/ajmg.a.33709</idno><idno type="ArticleID">AJMG33709</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1552-4825</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Marshall–Smith syndrome</term><term>dysostosis</term><term>kyphoscoliosis</term><term>mental retardation</term><term>natural history</term><term>wiki</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Marshall–Smith syndrome (MSS) is a distinctive entity of unknown etiology with fewer than 50 patients described in the medical literature to date. Through an International collaboration and use of an online wiki to facilitate data collection and sharing, we further delineate the phenotype and natural history of this syndrome. We present 15 new patients, the oldest being 30 years, provide an update on four previously published cases, and compare all patients with other patients reported in literature. Main clinical features are moderate to severe developmental delay with absent or limited speech, unusual behavior, dysharmonic bone maturation, respiratory compromise secondary to upper airway obstruction, short stature, and kyphoscoliosis. Facial features are characteristic with high forehead, underdeveloped midface, proptosis, anteverted nares, and everted lips. Minor abnormalities of brain morphology such as hypoplasia of the corpus callosum are common. Mortality from respiratory complications is high, but airway support increasingly allows survival into adulthood. Array‐CGH was performed on 12 of the cohort and no copy number variants of clear clinical relevance were identified. The present study is the first reported use of an online wiki to aid delineation of a genetic syndrome, and illustrates its value in collecting detailed data in rare conditions. © 2010 Wiley‐Liss, Inc.</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Belgique</li><li>Croatie</li><li>France</li><li>Inde</li><li>Norvège</li><li>Pays-Bas</li><li>Royaume-Uni</li><li>États-Unis</li></country><region><li>Angleterre</li><li>Floride</li><li>Grand Londres</li><li>Groningue (province)</li><li>Hollande-Méridionale</li><li>Hollande-Septentrionale</li><li>Midlands de l'Ouest</li><li>Oxfordshire</li><li>Saxe-Anhalt</li></region><settlement><li>Amsterdam</li><li>Birmingham</li><li>Bordeaux</li><li>Groningue</li><li>Leyde</li><li>Londres</li><li>Magdebourg</li><li>Oxford</li><li>Paris</li></settlement></list><tree><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Shaw, Adam C" sort="Shaw, Adam C" uniqKey="Shaw A" first="Adam C." last="Shaw">Adam C. Shaw</name></region><name sortKey="Cole, Trevor R P" sort="Cole, Trevor R P" uniqKey="Cole T" first="Trevor R. P." last="Cole">Trevor R. P. Cole</name><name sortKey="Knight, Samantha J L" sort="Knight, Samantha J L" uniqKey="Knight S" first="Samantha J. L." last="Knight">Samantha J. L. Knight</name><name sortKey="Shaw, Adam C" sort="Shaw, Adam C" uniqKey="Shaw A" first="Adam C." last="Shaw">Adam C. Shaw</name></country><country name="Pays-Bas"><noRegion><name sortKey="Van Balkom, Inge D C" sort="Van Balkom, Inge D C" uniqKey="Van Balkom I" first="Inge D. C." last="Van Balkom">Inge D. C. Van Balkom</name></noRegion><name sortKey="Hennekam, Raoul C M" sort="Hennekam, Raoul C M" uniqKey="Hennekam R" first="Raoul C. M." last="Hennekam">Raoul C. M. Hennekam</name><name sortKey="Van Balkom, Inge D C" sort="Van Balkom, Inge D C" uniqKey="Van Balkom I" first="Inge D. C." last="Van Balkom">Inge D. C. Van Balkom</name><name sortKey="Van Haeringen, Arie" sort="Van Haeringen, Arie" uniqKey="Van Haeringen A" first="Arie" last="Van Haeringen">Arie Van Haeringen</name></country><country name="États-Unis"><region name="Floride"><name sortKey="Bauer, Mislen" sort="Bauer, Mislen" uniqKey="Bauer M" first="Mislen" last="Bauer">Mislen Bauer</name></region></country><country name="France"><noRegion><name sortKey="Delrue, Marie Nge" sort="Delrue, Marie Nge" uniqKey="Delrue M" first="Marie-Ange" last="Delrue">Marie-Ange Delrue</name></noRegion><name sortKey="Cormier Aire, Valerie" sort="Cormier Aire, Valerie" uniqKey="Cormier Aire V" first="Valerie" last="Cormier-Daire">Valerie Cormier-Daire</name></country><country name="Norvège"><noRegion><name sortKey="Holmberg, Eva" sort="Holmberg, Eva" uniqKey="Holmberg E" first="Eva" last="Holmberg">Eva Holmberg</name></noRegion></country><country name="Belgique"><noRegion><name sortKey="Mortier, Geert" sort="Mortier, Geert" uniqKey="Mortier G" first="Geert" last="Mortier">Geert Mortier</name></noRegion></country><country name="Inde"><noRegion><name sortKey="Nampoothiri, Sheela" sort="Nampoothiri, Sheela" uniqKey="Nampoothiri S" first="Sheela" last="Nampoothiri">Sheela Nampoothiri</name></noRegion></country><country name="Croatie"><noRegion><name sortKey="Puselji, Silvija" sort="Puselji, Silvija" uniqKey="Puselji S" first="Silvija" last="Pušelji">Silvija Pušelji</name></noRegion></country><country name="Allemagne"><region name="Saxe-Anhalt"><name sortKey="Zenker, Martin" sort="Zenker, Martin" uniqKey="Zenker M" first="Martin" last="Zenker">Martin Zenker</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Belgique/explor/OpenAccessBelV2/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000F26 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 000F26 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Belgique
|area= OpenAccessBelV2
|flux= Main
|étape= Exploration
|type= RBID
|clé= ISTEX:4A603B76B6BA44BDB8BD5B4D6486E04DD277D6C0
|texte= Phenotype and natural history in Marshall–Smith syndrome
}}
| This area was generated with Dilib version V0.6.25. |  |