LymphedemaV1, PascalFrancis, Corpus, bibRecord, 000144

Primary Lymphedema With Coarctation of the Aorta: Possible New Syndrome or Variant of Irons-Bianchi Syndrome?

Identifieur interne : 000144 ( PascalFrancis/Corpus ); précédent : 000143; suivant : 000145

Primary Lymphedema With Coarctation of the Aorta: Possible New Syndrome or Variant of Irons-Bianchi Syndrome?

Auteurs : John S. Ferguson ; Shymalar Gunatheesan ; Glen Brice ; Rob Hastings ; Ruth Newbury-Ecob ; Peter S. Mortimer ; Sahar Mansour

Source :

American journal of medical genetics. Part A [ 1552-4825 ] ; 2011.

RBID : Pascal:11-0476989

Descripteurs français

Pascal (Inist)
- Lymphoedème, Coarctation aortique, Cardiopathie congénitale, Variant, Fer.

English descriptors

KwdEn :
- Aortic coarctation, Congenital cardiopathy, Iron, Lymphedema, Variant.

Abstract

We present a boy with congenital lymphedema, a congenital heart defect (coarctation of the aorta), and mild dysmorphic features. Clinical impression and targeted investigations ruled out Noonan syndrome and Milroy syndrome, but it was not clear whether or not he had Irons-Bianchi syndrome. We discuss the genomic and lymphoscintigraphy evaluation of this case, and review whether the small number of current case reports represent the original Irons-Bianchi syndrome or variants. We anticipate that ongoing molecular investigations such as Next Generation Sequencing will delineate a currently clinically defined phenotypic spectrum.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

A01	`01`	`1`		`@0 1552-4825`
A03		`1`		`@0 Am. j. med. genet., Part A`
A05				`@2 155`
A06				`@2 11`
A08	`01`	`1`	`ENG`	`@1 Primary Lymphedema With Coarctation of the Aorta: Possible New Syndrome or Variant of Irons-Bianchi Syndrome?`
A11	`01`	`1`		`@1 FERGUSON (John S.)`
A11	`02`	`1`		`@1 GUNATHEESAN (Shymalar)`
A11	`03`	`1`		`@1 BRICE (Glen)`
A11	`04`	`1`		`@1 HASTINGS (Rob)`
A11	`05`	`1`		`@1 NEWBURY-ECOB (Ruth)`
A11	`06`	`1`		`@1 MORTIMER (Peter S.)`
A11	`07`	`1`		`@1 MANSOUR (Sahar)`
A14	`01`			`@1 Department of Dermatology, St George's Healthcare NHS Trust @2 London @3 GBR @Z 1 aut. @Z 2 aut. @Z 6 aut.`
A14	`02`			`@1 SW Thames Regional Genetics Unit, St George's Healthcare NHS Trust @2 London @3 GBR @Z 3 aut. @Z 7 aut.`
A14	`03`			`@1 Department of Clinical Genetics, University Hospitals Bristol NHS Foundation Trust @2 Bristol @3 GBR @Z 4 aut. @Z 5 aut.`
A20				`@1 2762-2765`
A21				`@1 2011`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 17405A @5 354000507283600210`
A44				`@0 0000 @1 © 2011 INIST-CNRS. All rights reserved.`
A45				`@0 1/2 p.`
A47	`01`	`1`		`@0 11-0476989`
A60				`@1 P`
A61				`@0 A`
A64	`01`	`1`		`@0 American journal of medical genetics. Part A`
A66	`01`			`@0 GBR`
C01	`01`		`ENG`	@0 We present a boy with congenital lymphedema, a congenital heart defect (coarctation of the aorta), and mild dysmorphic features. Clinical impression and targeted investigations ruled out Noonan syndrome and Milroy syndrome, but it was not clear whether or not he had Irons-Bianchi syndrome. We discuss the genomic and lymphoscintigraphy evaluation of this case, and review whether the small number of current case reports represent the original Irons-Bianchi syndrome or variants. We anticipate that ongoing molecular investigations such as Next Generation Sequencing will delineate a currently clinically defined phenotypic spectrum.
C02	`01`	`X`		`@0 002B23`
C02	`02`	`X`		`@0 002B12B04`
C02	`03`	`X`		`@0 002B12B02`
C02	`04`	`X`		`@0 002B12A08`
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 Coarctation aortique @5 02`
C03	`02`	`X`	`ENG`	`@0 Aortic coarctation @5 02`
C03	`02`	`X`	`SPA`	`@0 Coartación aórtica @5 02`
C03	`03`	`X`	`FRE`	`@0 Cardiopathie congénitale @2 NM @5 03`
C03	`03`	`X`	`ENG`	`@0 Congenital cardiopathy @2 NM @5 03`
C03	`03`	`X`	`SPA`	`@0 Cardiopathía congénita @2 NM @5 03`
C03	`04`	`X`	`FRE`	`@0 Variant @5 09`
C03	`04`	`X`	`ENG`	`@0 Variant @5 09`
C03	`04`	`X`	`SPA`	`@0 Variante @5 09`
C03	`05`	`X`	`FRE`	`@0 Fer @2 NC @5 10`
C03	`05`	`X`	`ENG`	`@0 Iron @2 NC @5 10`
C03	`05`	`X`	`SPA`	`@0 Hierro @2 NC @5 10`
C07	`01`	`X`	`FRE`	`@0 Pathologie de l'appareil circulatoire @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 Pathologie des vaisseaux lymphatiques @5 38`
C07	`02`	`X`	`ENG`	`@0 Lymphatic vessel disease @5 38`
C07	`02`	`X`	`SPA`	`@0 Linfático patología @5 38`
C07	`03`	`X`	`FRE`	`@0 Pathologie de l'aorte @5 39`
C07	`03`	`X`	`ENG`	`@0 Aortic disease @5 39`
C07	`03`	`X`	`SPA`	`@0 Aorta patología @5 39`
C07	`04`	`X`	`FRE`	`@0 Maladie congénitale @5 40`
C07	`04`	`X`	`ENG`	`@0 Congenital disease @5 40`
C07	`04`	`X`	`SPA`	`@0 Enfermedad congénita @5 40`
C07	`05`	`X`	`FRE`	`@0 Malformation @5 41`
C07	`05`	`X`	`ENG`	`@0 Malformation @5 41`
C07	`05`	`X`	`SPA`	`@0 Malformación @5 41`
C07	`06`	`X`	`FRE`	`@0 Pathologie des vaisseaux sanguins @5 42`
C07	`06`	`X`	`ENG`	`@0 Vascular disease @5 42`
C07	`06`	`X`	`SPA`	`@0 Vaso sanguíneo patología @5 42`
C07	`07`	`X`	`FRE`	`@0 Pathologie des artères @5 43`
C07	`07`	`X`	`ENG`	`@0 Arterial disease @5 43`
C07	`07`	`X`	`SPA`	`@0 Arteria patología @5 43`
N21				`@1 332`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

Format Inist (serveur)

NO :	PASCAL 11-0476989 INIST
ET :	Primary Lymphedema With Coarctation of the Aorta: Possible New Syndrome or Variant of Irons-Bianchi Syndrome?
AU :	FERGUSON (John S.); GUNATHEESAN (Shymalar); BRICE (Glen); HASTINGS (Rob); NEWBURY-ECOB (Ruth); MORTIMER (Peter S.); MANSOUR (Sahar)
AF :	Department of Dermatology, St George's Healthcare NHS Trust/London/Royaume-Uni (1 aut., 2 aut., 6 aut.); SW Thames Regional Genetics Unit, St George's Healthcare NHS Trust/London/Royaume-Uni (3 aut., 7 aut.); Department of Clinical Genetics, University Hospitals Bristol NHS Foundation Trust/Bristol/Royaume-Uni (4 aut., 5 aut.)
DT :	Publication en série; Niveau analytique
SO :	American journal of medical genetics. Part A; ISSN 1552-4825; Royaume-Uni; Da. 2011; Vol. 155; No. 11; Pp. 2762-2765; Bibl. 1/2 p.
LA :	Anglais
EA :	We present a boy with congenital lymphedema, a congenital heart defect (coarctation of the aorta), and mild dysmorphic features. Clinical impression and targeted investigations ruled out Noonan syndrome and Milroy syndrome, but it was not clear whether or not he had Irons-Bianchi syndrome. We discuss the genomic and lymphoscintigraphy evaluation of this case, and review whether the small number of current case reports represent the original Irons-Bianchi syndrome or variants. We anticipate that ongoing molecular investigations such as Next Generation Sequencing will delineate a currently clinically defined phenotypic spectrum.
CC :	002B23; 002B12B04; 002B12B02; 002B12A08
FD :	Lymphoedème; Coarctation aortique; Cardiopathie congénitale; Variant; Fer
FG :	Pathologie de l'appareil circulatoire; Pathologie des vaisseaux lymphatiques; Pathologie de l'aorte; Maladie congénitale; Malformation; Pathologie des vaisseaux sanguins; Pathologie des artères
ED :	Lymphedema; Aortic coarctation; Congenital cardiopathy; Variant; Iron
EG :	Cardiovascular disease; Lymphatic vessel disease; Aortic disease; Congenital disease; Malformation; Vascular disease; Arterial disease
SD :	Linfedema; Coartación aórtica; Cardiopathía congénita; Variante; Hierro
LO :	INIST-17405A.354000507283600210
ID :	11-0476989

Links to Exploration step

Pascal:11-0476989

Le document en format XML

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<front><div type="abstract" xml:lang="en">We present a boy with congenital lymphedema, a congenital heart defect (coarctation of the aorta), and mild dysmorphic features. Clinical impression and targeted investigations ruled out Noonan syndrome and Milroy syndrome, but it was not clear whether or not he had Irons-Bianchi syndrome. We discuss the genomic and lymphoscintigraphy evaluation of this case, and review whether the small number of current case reports represent the original Irons-Bianchi syndrome or variants. We anticipate that ongoing molecular investigations such as Next Generation Sequencing will delineate a currently clinically defined phenotypic spectrum.</div>
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</fC03>
<fC03 i1="05" i2="X" l="FRE"><s0>Fer</s0>
<s2>NC</s2>
<s5>10</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Iron</s0>
<s2>NC</s2>
<s5>10</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Hierro</s0>
<s2>NC</s2>
<s5>10</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Pathologie de l'appareil circulatoire</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>Pathologie des vaisseaux lymphatiques</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>
<fC07 i1="03" i2="X" l="FRE"><s0>Pathologie de l'aorte</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Aortic disease</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Aorta patología</s0>
<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Maladie congénitale</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Congenital disease</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Enfermedad congénita</s0>
<s5>40</s5>
</fC07>
<fC07 i1="05" i2="X" l="FRE"><s0>Malformation</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="ENG"><s0>Malformation</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="SPA"><s0>Malformación</s0>
<s5>41</s5>
</fC07>
<fC07 i1="06" i2="X" l="FRE"><s0>Pathologie des vaisseaux sanguins</s0>
<s5>42</s5>
</fC07>
<fC07 i1="06" i2="X" l="ENG"><s0>Vascular disease</s0>
<s5>42</s5>
</fC07>
<fC07 i1="06" i2="X" l="SPA"><s0>Vaso sanguíneo patología</s0>
<s5>42</s5>
</fC07>
<fC07 i1="07" i2="X" l="FRE"><s0>Pathologie des artères</s0>
<s5>43</s5>
</fC07>
<fC07 i1="07" i2="X" l="ENG"><s0>Arterial disease</s0>
<s5>43</s5>
</fC07>
<fC07 i1="07" i2="X" l="SPA"><s0>Arteria patología</s0>
<s5>43</s5>
</fC07>
<fN21><s1>332</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
<server><NO>PASCAL 11-0476989 INIST</NO>
<ET>Primary Lymphedema With Coarctation of the Aorta: Possible New Syndrome or Variant of Irons-Bianchi Syndrome?</ET>
<AU>FERGUSON (John S.); GUNATHEESAN (Shymalar); BRICE (Glen); HASTINGS (Rob); NEWBURY-ECOB (Ruth); MORTIMER (Peter S.); MANSOUR (Sahar)</AU>
<AF>Department of Dermatology, St George's Healthcare NHS Trust/London/Royaume-Uni (1 aut., 2 aut., 6 aut.); SW Thames Regional Genetics Unit, St George's Healthcare NHS Trust/London/Royaume-Uni (3 aut., 7 aut.); Department of Clinical Genetics, University Hospitals Bristol NHS Foundation Trust/Bristol/Royaume-Uni (4 aut., 5 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>American journal of medical genetics. Part A; ISSN 1552-4825; Royaume-Uni; Da. 2011; Vol. 155; No. 11; Pp. 2762-2765; Bibl. 1/2 p.</SO>
<LA>Anglais</LA>
<EA>We present a boy with congenital lymphedema, a congenital heart defect (coarctation of the aorta), and mild dysmorphic features. Clinical impression and targeted investigations ruled out Noonan syndrome and Milroy syndrome, but it was not clear whether or not he had Irons-Bianchi syndrome. We discuss the genomic and lymphoscintigraphy evaluation of this case, and review whether the small number of current case reports represent the original Irons-Bianchi syndrome or variants. We anticipate that ongoing molecular investigations such as Next Generation Sequencing will delineate a currently clinically defined phenotypic spectrum.</EA>
<CC>002B23; 002B12B04; 002B12B02; 002B12A08</CC>
<FD>Lymphoedème; Coarctation aortique; Cardiopathie congénitale; Variant; Fer</FD>
<FG>Pathologie de l'appareil circulatoire; Pathologie des vaisseaux lymphatiques; Pathologie de l'aorte; Maladie congénitale; Malformation; Pathologie des vaisseaux sanguins; Pathologie des artères</FG>
<ED>Lymphedema; Aortic coarctation; Congenital cardiopathy; Variant; Iron</ED>
<EG>Cardiovascular disease; Lymphatic vessel disease; Aortic disease; Congenital disease; Malformation; Vascular disease; Arterial disease</EG>
<SD>Linfedema; Coartación aórtica; Cardiopathía congénita; Variante; Hierro</SD>
<LO>INIST-17405A.354000507283600210</LO>
<ID>11-0476989</ID>
</server>
</inist>
</record>

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Primary Lymphedema With Coarctation of the Aorta: Possible New Syndrome or Variant of Irons-Bianchi Syndrome?

Primary Lymphedema With Coarctation of the Aorta: Possible New Syndrome or Variant of Irons-Bianchi Syndrome?

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