Lymphedema, cardiac septal defects, and characteristic facies : Possible new case of irons-bianchi syndrome
Identifieur interne : 007903 ( Main/Merge ); précédent : 007902; suivant : 007904Lymphedema, cardiac septal defects, and characteristic facies : Possible new case of irons-bianchi syndrome
Auteurs : M. A. M. Van Steensel [Pays-Bas] ; M. Van Geel [Pays-Bas] ; C. Schrander-Stumpel [Pays-Bas] ; P. M. Steijlen [Pays-Bas] ; J. C. J. M. Veraart [Pays-Bas]Source :
- American journal of medical genetics. Part A [ 1552-4825 ] ; 2007.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Fer.
English descriptors
- KwdEn :
Abstract
We describe a Dutch girl with fetal hydrops, congenital lymphedema of the lower legs, complex congenital cardiac malformation, and a typical face with epicanthal folds. This particular combination of symptoms has been previously described by Irons and Bianchi in 1996. Our report confirms their observation and suggests that this particular constellation of symptoms may constitute a new syndrome. Molecular analysis confirms this statement by demonstrating absence of mutations in several genes known to be involved in syndromes with lymphedema.
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Pascal:07-0462065Le document en format XML
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<series><title level="j" type="main">American journal of medical genetics. Part A</title>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Case study</term>
<term>Fetus</term>
<term>Heart</term>
<term>Iron</term>
<term>Lymphedema</term>
<term>Nasal septum</term>
<term>Syndrome</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Lymphoedème</term>
<term>Coeur</term>
<term>Cloison nasale</term>
<term>Etude cas</term>
<term>Fer</term>
<term>Syndrome</term>
<term>Foetus</term>
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<front><div type="abstract" xml:lang="en">We describe a Dutch girl with fetal hydrops, congenital lymphedema of the lower legs, complex congenital cardiac malformation, and a typical face with epicanthal folds. This particular combination of symptoms has been previously described by Irons and Bianchi in 1996. Our report confirms their observation and suggests that this particular constellation of symptoms may constitute a new syndrome. Molecular analysis confirms this statement by demonstrating absence of mutations in several genes known to be involved in syndromes with lymphedema.</div>
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<affiliations><list><country><li>Pays-Bas</li>
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<name sortKey="Schrander Stumpel, C" sort="Schrander Stumpel, C" uniqKey="Schrander Stumpel C" first="C." last="Schrander-Stumpel">C. Schrander-Stumpel</name>
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<name sortKey="Steijlen, P M" sort="Steijlen, P M" uniqKey="Steijlen P" first="P. M." last="Steijlen">P. M. Steijlen</name>
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