LymphedemaV1, Main, Curation, bibRecord, 007571

Lymphedema, cardiac septal defects, and characteristic facies: Possible new case of Irons–Bianchi syndrome

Identifieur interne : 007571 ( Main/Curation ); précédent : 007570; suivant : 007572

Lymphedema, 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 ] ; 2007-10-15.

RBID : ISTEX:C2DF068F67AA474E0E094CC7E59989822B1651F8

Descripteurs français

KwdFr :
- Anasarque foeto-placentaire (diagnostic), Communications interventriculaires (diagnostic), Enfant d'âge préscolaire, Faciès, Facteurs de transcription (génétique), Facteurs de transcription Forkhead (génétique), Facteurs de transcription SOX-F, Femelle, Humains, Lymphoedème (), Lymphoedème (anatomopathologie), Lymphoedème (diagnostic), Phénotype, Protéines HMG (génétique), Récepteur-3 au facteur croissance endothéliale vasculaire (génétique), Syndrome.
MESH :
- anatomopathologie : Lymphoedème.
- diagnostic : Anasarque foeto-placentaire, Communications interventriculaires, Lymphoedème.
- génétique : Facteurs de transcription, Facteurs de transcription Forkhead, Protéines HMG, Récepteur-3 au facteur croissance endothéliale vasculaire.
- Enfant d'âge préscolaire, Faciès, Facteurs de transcription SOX-F, Femelle, Humains, Lymphoedème, Phénotype, Syndrome.
Pascal (Inist)
- Cloison nasale, Coeur, Etude cas, Fer, Foetus, Lymphoedème, Syndrome.
Wicri :
- topic : Fer.

English descriptors

KwdEn :
- Case study, Child, Preschool, Facies, Female, Fetus, Forkhead Transcription Factors (genetics), Heart, Heart Septal Defects, Ventricular (diagnosis), High Mobility Group Proteins (genetics), Humans, Hydrops Fetalis (diagnosis), Iron, Lymphedema, Lymphedema (congenital), Lymphedema (diagnosis), Lymphedema (pathology), Nasal septum, Phenotype, SOXF Transcription Factors, Syndrome, Transcription Factors (genetics), Vascular Endothelial Growth Factor Receptor-3 (genetics).
MESH :
- chemical , genetics : Forkhead Transcription Factors, High Mobility Group Proteins, Transcription Factors, Vascular Endothelial Growth Factor Receptor-3.
- congenital : Lymphedema.
- diagnosis : Heart Septal Defects, Ventricular, Hydrops Fetalis, Lymphedema.
- pathology : Lymphedema.
- Child, Preschool, Facies, Female, Humans, Phenotype, SOXF Transcription Factors, Syndrome.

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. © 2007 Wiley‐Liss, Inc.

Url:

https://api.istex.fr/document/C2DF068F67AA474E0E094CC7E59989822B1651F8/fulltext/pdf

DOI: 10.1002/ajmg.a.31949

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Le document en format XML

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<term>Child, Preschool</term>
<term>Facies</term>
<term>Female</term>
<term>Fetus</term>
<term>Forkhead Transcription Factors (genetics)</term>
<term>Heart</term>
<term>Heart Septal Defects, Ventricular (diagnosis)</term>
<term>High Mobility Group Proteins (genetics)</term>
<term>Humans</term>
<term>Hydrops Fetalis (diagnosis)</term>
<term>Iron</term>
<term>Lymphedema</term>
<term>Lymphedema (congenital)</term>
<term>Lymphedema (diagnosis)</term>
<term>Lymphedema (pathology)</term>
<term>Nasal septum</term>
<term>Phenotype</term>
<term>SOXF Transcription Factors</term>
<term>Syndrome</term>
<term>Transcription Factors (genetics)</term>
<term>Vascular Endothelial Growth Factor Receptor-3 (genetics)</term>
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<keywords scheme="KwdFr" xml:lang="fr"><term>Anasarque foeto-placentaire (diagnostic)</term>
<term>Communications interventriculaires (diagnostic)</term>
<term>Enfant d'âge préscolaire</term>
<term>Faciès</term>
<term>Facteurs de transcription (génétique)</term>
<term>Facteurs de transcription Forkhead (génétique)</term>
<term>Facteurs de transcription SOX-F</term>
<term>Femelle</term>
<term>Humains</term>
<term>Lymphoedème ()</term>
<term>Lymphoedème (anatomopathologie)</term>
<term>Lymphoedème (diagnostic)</term>
<term>Phénotype</term>
<term>Protéines HMG (génétique)</term>
<term>Récepteur-3 au facteur croissance endothéliale vasculaire (génétique)</term>
<term>Syndrome</term>
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<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Forkhead Transcription Factors</term>
<term>High Mobility Group Proteins</term>
<term>Transcription Factors</term>
<term>Vascular Endothelial Growth Factor Receptor-3</term>
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<keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Lymphoedème</term>
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<keywords scheme="MESH" qualifier="congenital" xml:lang="en"><term>Lymphedema</term>
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<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Heart Septal Defects, Ventricular</term>
<term>Hydrops Fetalis</term>
<term>Lymphedema</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnostic" xml:lang="fr"><term>Anasarque foeto-placentaire</term>
<term>Communications interventriculaires</term>
<term>Lymphoedème</term>
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<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Facteurs de transcription</term>
<term>Facteurs de transcription Forkhead</term>
<term>Protéines HMG</term>
<term>Récepteur-3 au facteur croissance endothéliale vasculaire</term>
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<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Lymphedema</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Child, Preschool</term>
<term>Facies</term>
<term>Female</term>
<term>Humans</term>
<term>Phenotype</term>
<term>SOXF Transcription Factors</term>
<term>Syndrome</term>
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<term>Faciès</term>
<term>Facteurs de transcription SOX-F</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. © 2007 Wiley‐Liss, Inc.</div>
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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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<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. © 2007 Wiley‐Liss, Inc.</div>
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Lymphedema, cardiac septal defects, and characteristic facies: Possible new case of Irons–Bianchi syndrome

Lymphedema, cardiac septal defects, and characteristic facies: Possible new case of Irons–Bianchi syndrome

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