LymphedemaV1, Main, Exploration, bibRecord, 005971

Congenital lymphatic dysplasia in Kabuki syndrome: first report of an unusual association.

Identifieur interne : 005971 ( Main/Exploration ); précédent : 005970; suivant : 005972

Congenital lymphatic dysplasia in Kabuki syndrome: first report of an unusual association.

Auteurs : G. Morcaldi [Italie] ; F. Boccardo ; C. Campisi ; T. Bellini ; D. Massocco ; E. Bonioli

Source :

Lymphology [ 0024-7766 ] ; 2010.

RBID : pubmed:21446574

Descripteurs français

KwdFr :
- Déficience intellectuelle (anatomopathologie), Face (malformations), Humains, Hémopathies (), Hémopathies (diagnostic), Lymphoedème (), Lymphoedème (diagnostic), Maladies vestibulaires (), Maladies vestibulaires (diagnostic), Malformations multiples (diagnostic), Syndrome.
MESH :
- anatomopathologie : Déficience intellectuelle.
- diagnostic : Hémopathies, Lymphoedème, Maladies vestibulaires, Malformations multiples.
- malformations : Face.
- Humains, Hémopathies, Lymphoedème, Maladies vestibulaires, Syndrome.

English descriptors

KwdEn :
- Abnormalities, Multiple (diagnosis), Face (abnormalities), Hematologic Diseases (complications), Hematologic Diseases (diagnosis), Humans, Intellectual Disability (pathology), Lymphedema (complications), Lymphedema (congenital), Lymphedema (diagnosis), Syndrome, Vestibular Diseases (complications), Vestibular Diseases (diagnosis).
MESH :
- abnormalities : Face.
- complications : Hematologic Diseases, Lymphedema, Vestibular Diseases.
- congenital : Lymphedema.
- diagnosis : Abnormalities, Multiple, Hematologic Diseases, Lymphedema, Vestibular Diseases.
- pathology : Intellectual Disability.
- Humans, Syndrome.

Abstract

Kabuki syndrome was first described in Japan in 1981 as a rare disorder of unknown cause. Its main features include characteristic facies, postnatal growth retardation, and mental delay. To date, there is no molecular marker for Kabuki syndrome, which is considered genetically heterogeneous and still is a clinically-based diagnosis. Here we describe the first case of a patient affected by Kabuki syndrome associated with lymphatic dysplasia. We suggest accurate evaluation of all Kabuki patients as early as possible in order to diagnose lymphedema or other clinical manifestations of lymphatic system involvement. Early identification of lymphatic system maldevelopment provides the best chance for reducing the risk of developing progressive lymphedema with associated tissue changes (fibrosis, sclerosis, and fat deposition).

PubMed: 21446574

Affiliations:

Italie

Le document en format XML

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<term>Hémopathies (diagnostic)</term>
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<front><div type="abstract" xml:lang="en">Kabuki syndrome was first described in Japan in 1981 as a rare disorder of unknown cause. Its main features include characteristic facies, postnatal growth retardation, and mental delay. To date, there is no molecular marker for Kabuki syndrome, which is considered genetically heterogeneous and still is a clinically-based diagnosis. Here we describe the first case of a patient affected by Kabuki syndrome associated with lymphatic dysplasia. We suggest accurate evaluation of all Kabuki patients as early as possible in order to diagnose lymphedema or other clinical manifestations of lymphatic system involvement. Early identification of lymphatic system maldevelopment provides the best chance for reducing the risk of developing progressive lymphedema with associated tissue changes (fibrosis, sclerosis, and fat deposition).</div>
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<name sortKey="Campisi, C" sort="Campisi, C" uniqKey="Campisi C" first="C" last="Campisi">C. Campisi</name>
<name sortKey="Massocco, D" sort="Massocco, D" uniqKey="Massocco D" first="D" last="Massocco">D. Massocco</name>
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<country name="Italie"><noRegion><name sortKey="Morcaldi, G" sort="Morcaldi, G" uniqKey="Morcaldi G" first="G" last="Morcaldi">G. Morcaldi</name>
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Serveur d'exploration sur le lymphœdème

Congenital lymphatic dysplasia in Kabuki syndrome: first report of an unusual association.

Congenital lymphatic dysplasia in Kabuki syndrome: first report of an unusual association.

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

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

	Serveur d'exploration sur le lymphœdème
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.