Lymphedema, cardiac septal defects, and characteristic facies: Possible new case of Irons–Bianchi syndrome
Identifieur interne : 007571 ( Main/Exploration ); précédent : 007570; suivant : 007572Lymphedema, 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.
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)
- 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:
DOI: 10.1002/ajmg.a.31949
Affiliations:
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A. M." last="Van Steensel">M. A. M. Van Steensel</name><affiliation wicri:level="1"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Dermatology, University Hospital Maastricht, Maastricht</wicri:regionArea><wicri:noRegion>Maastricht</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>GROW research school, University of Maastricht, Maastricht</wicri:regionArea><wicri:noRegion>Maastricht</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Dermatology, University Hospital Maastricht, P.O. Box 5800, 6202 AZ Maastricht</wicri:regionArea><wicri:noRegion>6202 AZ Maastricht</wicri:noRegion></affiliation></author><author><name sortKey="Van Geel, M" sort="Van Geel, M" uniqKey="Van Geel M" first="M." last="Van Geel">M. Van Geel</name><affiliation wicri:level="1"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Dermatology, University Hospital Maastricht, Maastricht</wicri:regionArea><wicri:noRegion>Maastricht</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>GROW research school, University of Maastricht, Maastricht</wicri:regionArea><wicri:noRegion>Maastricht</wicri:noRegion></affiliation></author><author><name sortKey="Schrander Tumpel, C" sort="Schrander Tumpel, C" uniqKey="Schrander Tumpel C" first="C." last="Schrander-Stumpel">C. 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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></front></TEI><affiliations><list><country><li>Pays-Bas</li></country></list><tree><country name="Pays-Bas"><noRegion><name sortKey="Van Steensel, M A M" sort="Van Steensel, M A M" uniqKey="Van Steensel M" first="M. A. M." last="Van Steensel">M. A. M. Van Steensel</name></noRegion><name sortKey="Schrander Tumpel, C" sort="Schrander Tumpel, C" uniqKey="Schrander Tumpel C" first="C." last="Schrander-Stumpel">C. Schrander-Stumpel</name><name sortKey="Schrander Tumpel, C" sort="Schrander Tumpel, C" uniqKey="Schrander Tumpel C" first="C." last="Schrander-Stumpel">C. Schrander-Stumpel</name><name sortKey="Steijlen, P M" sort="Steijlen, P M" uniqKey="Steijlen P" first="P. M." last="Steijlen">P. M. Steijlen</name><name sortKey="Steijlen, P M" sort="Steijlen, P M" uniqKey="Steijlen P" first="P. M." last="Steijlen">P. M. Steijlen</name><name sortKey="Van Geel, M" sort="Van Geel, M" uniqKey="Van Geel M" first="M." last="Van Geel">M. Van Geel</name><name sortKey="Van Geel, M" sort="Van Geel, M" uniqKey="Van Geel M" first="M." last="Van Geel">M. Van Geel</name><name sortKey="Van Steensel, M A M" sort="Van Steensel, M A M" uniqKey="Van Steensel M" first="M. A. M." last="Van Steensel">M. A. M. Van Steensel</name><name sortKey="Van Steensel, M A M" sort="Van Steensel, M A M" uniqKey="Van Steensel M" first="M. A. M." last="Van Steensel">M. A. M. Van Steensel</name><name sortKey="Veraart, J C J M" sort="Veraart, J C J M" uniqKey="Veraart J" first="J. C. J. M." last="Veraart">J. C. J. M. Veraart</name><name sortKey="Veraart, J C J M" sort="Veraart, J C J M" uniqKey="Veraart J" first="J. C. J. M." last="Veraart">J. C. J. M. Veraart</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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