Primary lymphedema with coarctation of the aorta: possible new syndrome or variant of Irons-Bianchi syndrome?
Identifieur interne : 002449 ( PubMed/Corpus ); précédent : 002448; suivant : 002450Primary 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 MansourSource :
- American journal of medical genetics. Part A [ 1552-4833 ] ; 2011.
English descriptors
- KwdEn :
- Aortic Coarctation (diagnosis), Aortic Coarctation (pathology), Child, Child, Preschool, Chromosome Deletion, Chromosomes, Human, Pair 15 (genetics), Chromosomes, Human, Pair 5 (genetics), DNA Copy Number Variations, Female, Genetic Testing, Humans, Infant, Newborn, Learning Disorders (genetics), Lymphedema (congenital), Lymphedema (diagnosis), Lymphedema (genetics), Lymphedema (pathology), Lymphoscintigraphy, Male, Noonan Syndrome (genetics).
- MESH :
- congenital : Lymphedema.
- diagnosis : Aortic Coarctation, Lymphedema.
- genetics : Chromosomes, Human, Pair 15, Chromosomes, Human, Pair 5, Learning Disorders, Lymphedema, Noonan Syndrome.
- pathology : Aortic Coarctation, Lymphedema.
- Child, Child, Preschool, Chromosome Deletion, DNA Copy Number Variations, Female, Genetic Testing, Humans, Infant, Newborn, Lymphoscintigraphy, Male.
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.
DOI: 10.1002/ajmg.a.34188
PubMed: 21954173
Links to Exploration step
pubmed:21954173Le document en format XML
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<author><name sortKey="Ferguson, John S" sort="Ferguson, John S" uniqKey="Ferguson J" first="John S" last="Ferguson">John S. Ferguson</name>
<affiliation><nlm:affiliation>Department of Dermatology, St George's Healthcare NHS Trust, London, UK. John.Ferguson@gmail.com</nlm:affiliation>
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<author><name sortKey="Gunatheesan, Shymalar" sort="Gunatheesan, Shymalar" uniqKey="Gunatheesan S" first="Shymalar" last="Gunatheesan">Shymalar Gunatheesan</name>
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<author><name sortKey="Brice, Glen" sort="Brice, Glen" uniqKey="Brice G" first="Glen" last="Brice">Glen Brice</name>
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<author><name sortKey="Hastings, Rob" sort="Hastings, Rob" uniqKey="Hastings R" first="Rob" last="Hastings">Rob Hastings</name>
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<author><name sortKey="Newbury Ecob, Ruth" sort="Newbury Ecob, Ruth" uniqKey="Newbury Ecob R" first="Ruth" last="Newbury-Ecob">Ruth Newbury-Ecob</name>
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<author><name sortKey="Mortimer, Peter S" sort="Mortimer, Peter S" uniqKey="Mortimer P" first="Peter S" last="Mortimer">Peter S. Mortimer</name>
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<author><name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Primary lymphedema with coarctation of the aorta: possible new syndrome or variant of Irons-Bianchi syndrome?</title>
<author><name sortKey="Ferguson, John S" sort="Ferguson, John S" uniqKey="Ferguson J" first="John S" last="Ferguson">John S. Ferguson</name>
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<author><name sortKey="Brice, Glen" sort="Brice, Glen" uniqKey="Brice G" first="Glen" last="Brice">Glen Brice</name>
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<author><name sortKey="Hastings, Rob" sort="Hastings, Rob" uniqKey="Hastings R" first="Rob" last="Hastings">Rob Hastings</name>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Aortic Coarctation (diagnosis)</term>
<term>Aortic Coarctation (pathology)</term>
<term>Child</term>
<term>Child, Preschool</term>
<term>Chromosome Deletion</term>
<term>Chromosomes, Human, Pair 15 (genetics)</term>
<term>Chromosomes, Human, Pair 5 (genetics)</term>
<term>DNA Copy Number Variations</term>
<term>Female</term>
<term>Genetic Testing</term>
<term>Humans</term>
<term>Infant, Newborn</term>
<term>Learning Disorders (genetics)</term>
<term>Lymphedema (congenital)</term>
<term>Lymphedema (diagnosis)</term>
<term>Lymphedema (genetics)</term>
<term>Lymphedema (pathology)</term>
<term>Lymphoscintigraphy</term>
<term>Male</term>
<term>Noonan Syndrome (genetics)</term>
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<keywords scheme="MESH" qualifier="congenital" xml:lang="en"><term>Lymphedema</term>
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<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Aortic Coarctation</term>
<term>Lymphedema</term>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chromosomes, Human, Pair 15</term>
<term>Chromosomes, Human, Pair 5</term>
<term>Learning Disorders</term>
<term>Lymphedema</term>
<term>Noonan Syndrome</term>
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<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Aortic Coarctation</term>
<term>Lymphedema</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Child</term>
<term>Child, Preschool</term>
<term>Chromosome Deletion</term>
<term>DNA Copy Number Variations</term>
<term>Female</term>
<term>Genetic Testing</term>
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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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<ArticleTitle>Primary lymphedema with coarctation of the aorta: possible new syndrome or variant of Irons-Bianchi syndrome?</ArticleTitle>
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<Abstract><AbstractText>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.</AbstractText>
<CopyrightInformation>Copyright © 2011 Wiley Periodicals, Inc.</CopyrightInformation>
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