LymphedemaV1, PascalFrancis, Curation, bibRecord, 000528

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

Identifieur interne : 000528 ( PascalFrancis/Curation ); précédent : 000527; suivant : 000529

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.

RBID : Pascal:07-0462065

Descripteurs français

Pascal (Inist)
- Lymphoedème, Coeur, Cloison nasale, Etude cas, Fer, Syndrome, Foetus.
Wicri :
- topic : Fer.

English descriptors

KwdEn :
- Case study, Fetus, Heart, Iron, Lymphedema, Nasal septum, 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.

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`

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Pascal:07-0462065

Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Lymphedema, cardiac septal defects, and characteristic facies : Possible new case of irons-bianchi syndrome</title>
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<author><name sortKey="Schrander Stumpel, C" sort="Schrander Stumpel, C" uniqKey="Schrander Stumpel C" first="C." last="Schrander-Stumpel">C. Schrander-Stumpel</name>
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<author><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>
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<series><title level="j" type="main">American journal of medical genetics. Part A</title>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Case study</term>
<term>Fetus</term>
<term>Heart</term>
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<term>Lymphedema</term>
<term>Nasal septum</term>
<term>Syndrome</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Lymphoedème</term>
<term>Coeur</term>
<term>Cloison nasale</term>
<term>Etude cas</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.</div>
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<fA14 i1="02"><s1>GROW research school, University of Maastricht</s1>
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<fA14 i1="03"><s1>Department of Clinical Genetics, University Hospital Maastricht</s1>
<s2>Maastricht</s2>
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<fC01 i1="01" l="ENG"><s0>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.</s0>
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<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>
</inist>
</record>

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   |texte=   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

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

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