LymphedemaV1, PubMed, Corpus, bibRecord, 002449

Primary lymphedema with coarctation of the aorta: possible new syndrome or variant of Irons-Bianchi syndrome?

Identifieur interne : 002449 ( PubMed/Corpus ); précédent : 002448; suivant : 002450

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 [ 1552-4833 ] ; 2011.

RBID : pubmed:21954173

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:21954173

Le 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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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Aortic Coarctation (diagnosis)</term>
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<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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<term>Lymphedema</term>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chromosomes, Human, Pair 15</term>
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<term>Lymphedema</term>
<term>Noonan Syndrome</term>
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<term>Lymphedema</term>
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<term>Chromosome Deletion</term>
<term>DNA Copy Number Variations</term>
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<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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<CopyrightInformation>Copyright © 2011 Wiley Periodicals, Inc.</CopyrightInformation>
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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?

Source :

English descriptors

Abstract

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki