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Lymphedema, cardiac septal defects, and characteristic facies : Possible new case of irons-bianchi syndrome

Identifieur interne : 000432 ( PascalFrancis/Corpus ); précédent : 000431; suivant : 000433

Lymphedema, 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. Veraart

Source :

RBID : Pascal:07-0462065

Descripteurs français

English descriptors

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.

pA  
A01 01  1    @0 1552-4825
A03   1    @0 Am. j. med. genet., Part A
A05       @2 143
A06       @2 20
A08 01  1  ENG  @1 Lymphedema, cardiac septal defects, and characteristic facies : Possible new case of irons-bianchi syndrome
A11 01  1    @1 VAN STEENSEL (M. A. M.)
A11 02  1    @1 VAN GEEL (M.)
A11 03  1    @1 SCHRANDER-STUMPEL (C.)
A11 04  1    @1 STEIJLEN (P. M.)
A11 05  1    @1 VERAART (J. C. J. M.)
A14 01      @1 Department of Dermatology, University Hospital Maastricht @2 Maastricht @3 NLD @Z 1 aut. @Z 2 aut. @Z 4 aut. @Z 5 aut.
A14 02      @1 GROW research school, University of Maastricht @2 Maastricht @3 NLD @Z 1 aut. @Z 2 aut. @Z 3 aut. @Z 4 aut. @Z 5 aut.
A14 03      @1 Department of Clinical Genetics, University Hospital Maastricht @2 Maastricht @3 NLD @Z 3 aut.
A20       @1 2448-2451
A21       @1 2007
A23 01      @0 ENG
A43 01      @1 INIST @2 17405A @5 354000149830930120
A44       @0 0000 @1 © 2007 INIST-CNRS. All rights reserved.
A45       @0 1/4 p.
A47 01  1    @0 07-0462065
A60       @1 P
A61       @0 A
A64 01  1    @0 American journal of medical genetics. Part A
A66 01      @0 USA
C01 01    ENG  @0 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.
C02 01  X    @0 002B23
C02 02  X    @0 002B12B04
C03 01  X  FRE  @0 Lymphoedème @5 01
C03 01  X  ENG  @0 Lymphedema @5 01
C03 01  X  SPA  @0 Linfedema @5 01
C03 02  X  FRE  @0 Coeur @5 09
C03 02  X  ENG  @0 Heart @5 09
C03 02  X  SPA  @0 Corazón @5 09
C03 03  X  FRE  @0 Cloison nasale @5 10
C03 03  X  ENG  @0 Nasal septum @5 10
C03 03  X  SPA  @0 Tabique nasal @5 10
C03 04  X  FRE  @0 Etude cas @5 11
C03 04  X  ENG  @0 Case study @5 11
C03 04  X  SPA  @0 Estudio caso @5 11
C03 05  X  FRE  @0 Fer @2 NC @5 12
C03 05  X  ENG  @0 Iron @2 NC @5 12
C03 05  X  SPA  @0 Hierro @2 NC @5 12
C03 06  X  FRE  @0 Syndrome @5 13
C03 06  X  ENG  @0 Syndrome @5 13
C03 06  X  SPA  @0 Síndrome @5 13
C03 07  X  FRE  @0 Foetus @5 14
C03 07  X  ENG  @0 Fetus @5 14
C03 07  X  SPA  @0 Feto @5 14
C07 01  X  FRE  @0 Appareil circulatoire pathologie @5 37
C07 01  X  ENG  @0 Cardiovascular disease @5 37
C07 01  X  SPA  @0 Aparato circulatorio patología @5 37
C07 02  X  FRE  @0 Lymphatique pathologie @5 38
C07 02  X  ENG  @0 Lymphatic vessel disease @5 38
C07 02  X  SPA  @0 Linfático patología @5 38
N21       @1 302
N44 01      @1 OTO
N82       @1 OTO

Format Inist (serveur)

NO : PASCAL 07-0462065 INIST
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:07-0462065

Le document en format XML

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<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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</fC03>
<fC03 i1="03" i2="X" l="SPA">
<s0>Tabique nasal</s0>
<s5>10</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE">
<s0>Etude cas</s0>
<s5>11</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG">
<s0>Case study</s0>
<s5>11</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA">
<s0>Estudio caso</s0>
<s5>11</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE">
<s0>Fer</s0>
<s2>NC</s2>
<s5>12</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG">
<s0>Iron</s0>
<s2>NC</s2>
<s5>12</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA">
<s0>Hierro</s0>
<s2>NC</s2>
<s5>12</s5>
</fC03>
<fC03 i1="06" i2="X" l="FRE">
<s0>Syndrome</s0>
<s5>13</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG">
<s0>Syndrome</s0>
<s5>13</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA">
<s0>Síndrome</s0>
<s5>13</s5>
</fC03>
<fC03 i1="07" i2="X" l="FRE">
<s0>Foetus</s0>
<s5>14</s5>
</fC03>
<fC03 i1="07" i2="X" l="ENG">
<s0>Fetus</s0>
<s5>14</s5>
</fC03>
<fC03 i1="07" i2="X" l="SPA">
<s0>Feto</s0>
<s5>14</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE">
<s0>Appareil circulatoire pathologie</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG">
<s0>Cardiovascular disease</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA">
<s0>Aparato circulatorio patología</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE">
<s0>Lymphatique pathologie</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG">
<s0>Lymphatic vessel disease</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA">
<s0>Linfático patología</s0>
<s5>38</s5>
</fC07>
<fN21>
<s1>302</s1>
</fN21>
<fN44 i1="01">
<s1>OTO</s1>
</fN44>
<fN82>
<s1>OTO</s1>
</fN82>
</pA>
</standard>
<server>
<NO>PASCAL 07-0462065 INIST</NO>
<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>
<DT>Publication en série; Niveau analytique</DT>
<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.</SO>
<LA>Anglais</LA>
<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.</EA>
<CC>002B23; 002B12B04</CC>
<FD>Lymphoedème; Coeur; Cloison nasale; Etude cas; Fer; Syndrome; Foetus</FD>
<FG>Appareil circulatoire pathologie; Lymphatique pathologie</FG>
<ED>Lymphedema; Heart; Nasal septum; Case study; Iron; Syndrome; Fetus</ED>
<EG>Cardiovascular disease; Lymphatic vessel disease</EG>
<SD>Linfedema; Corazón; Tabique nasal; Estudio caso; Hierro; Síndrome; Feto</SD>
<LO>INIST-17405A.354000149830930120</LO>
<ID>07-0462065</ID>
</server>
</inist>
</record>

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