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

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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

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.

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

DOI: 10.1002/ajmg.a.31949

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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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Abstract

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