Lymphedema, cardiac septal defects, and characteristic facies : Possible new case of irons-bianchi syndrome
Identifieur interne : 000432 ( PascalFrancis/Corpus ); précédent : 000431; suivant : 000433Lymphedema, cardiac septal defects, and characteristic facies : Possible new case of irons-bianchi syndrome
Auteurs : M. A. M. Van Steensel ; M. Van Geel ; C. Schrander-Stumpel ; P. M. Steijlen ; J. C. J. M. VeraartSource :
- American journal of medical genetics. Part A [ 1552-4825 ] ; 2007.
Descripteurs français
- Pascal (Inist)
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.
Notice en format standard (ISO 2709)
Pour connaître la documentation sur le format Inist Standard.
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Format Inist (serveur)
NO : | PASCAL 07-0462065 INIST |
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ET : | Lymphedema, cardiac septal defects, and characteristic facies : Possible new case of irons-bianchi syndrome |
AU : | VAN STEENSEL (M. A. M.); VAN GEEL (M.); SCHRANDER-STUMPEL (C.); STEIJLEN (P. M.); VERAART (J. C. J. M.) |
AF : | Department of Dermatology, University Hospital Maastricht/Maastricht/Pays-Bas (1 aut., 2 aut., 4 aut., 5 aut.); GROW research school, University of Maastricht/Maastricht/Pays-Bas (1 aut., 2 aut., 3 aut., 4 aut., 5 aut.); Department of Clinical Genetics, University Hospital Maastricht/Maastricht/Pays-Bas (3 aut.) |
DT : | Publication en série; Niveau analytique |
SO : | American journal of medical genetics. Part A; ISSN 1552-4825; Etats-Unis; Da. 2007; Vol. 143; No. 20; Pp. 2448-2451; Bibl. 1/4 p. |
LA : | Anglais |
EA : | 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. |
CC : | 002B23; 002B12B04 |
FD : | Lymphoedème; Coeur; Cloison nasale; Etude cas; Fer; Syndrome; Foetus |
FG : | Appareil circulatoire pathologie; Lymphatique pathologie |
ED : | Lymphedema; Heart; Nasal septum; Case study; Iron; Syndrome; Fetus |
EG : | Cardiovascular disease; Lymphatic vessel disease |
SD : | Linfedema; Corazón; Tabique nasal; Estudio caso; Hierro; Síndrome; Feto |
LO : | INIST-17405A.354000149830930120 |
ID : | 07-0462065 |
Links to Exploration step
Pascal:07-0462065Le document en format XML
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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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<ET>Lymphedema, cardiac septal defects, and characteristic facies : Possible new case of irons-bianchi syndrome</ET>
<AU>VAN STEENSEL (M. A. M.); VAN GEEL (M.); SCHRANDER-STUMPEL (C.); STEIJLEN (P. M.); VERAART (J. C. J. M.)</AU>
<AF>Department of Dermatology, University Hospital Maastricht/Maastricht/Pays-Bas (1 aut., 2 aut., 4 aut., 5 aut.); GROW research school, University of Maastricht/Maastricht/Pays-Bas (1 aut., 2 aut., 3 aut., 4 aut., 5 aut.); Department of Clinical Genetics, University Hospital Maastricht/Maastricht/Pays-Bas (3 aut.)</AF>
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