LymphedemaV1, Main, Merge, bibRecord, 009C75

Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: A review

Identifieur interne : 009C75 ( Main/Merge ); précédent : 009C74; suivant : 009C76

Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: A review

Auteurs : Inge D. C. Van Balkom ; Mariel Alders [Pays-Bas] ; Judith Allanson [Canada] ; Carlo Bellini [Italie] ; Ulrich Frank [Allemagne] ; Greetje De Jong [Afrique du Sud] ; Ingeborg Kolbe [Allemagne] ; Didier Lacombe [France] ; Stan Rockson [États-Unis] ; Peter Rowe [Canada] ; Frits Wijburg [Pays-Bas] ; Raoul C. M. Hennekam [Pays-Bas]

Source :

American journal of medical genetics [ 0148-7299 ] ; 2002.

RBID : Pascal:03-0022921

Descripteurs français

Pascal (Inist)
- Lymphoedème, Homme, Association morbide, Lymphangiectasie, Phénotype, Arriération mentale, Revue bibliographique, Etude cas, Consanguinité, Déterminisme génétique, Pathogénie, Etude familiale, Hennekam syndrome.
Wicri :
- topic : Homme.

English descriptors

KwdEn :
- Bibliographic review, Case study, Concomitant disease, Consanguinity, Family study, Genetic determinism, Hennekam syndrome, Human, Lymphangiectasis, Lymphedema, Mental retardation, Pathogenesis, Phenotype.

Abstract

The Hennekam syndrome is an infrequently reported heritable entity characterized by lymphedema, lymphangiectasia, and developmental delay. Here we add an additional 8 patients, and compare their findings to the 16 cases from the literature. The lymphedema is usually congenital, can be markedly asymmetrical, and, often, gradually progressive. Complications such as erysipelas are common. The lymphangiectasias are present in the intestines, but have also been found in the pleura, pericardium, thyroid gland, and kidney. Several patients have demonstrated congenital cardiac and blood vessel anomalies, pointing to a disturbance of angiogenesis in at least some of the patients. Facial features are variable, and are chiefly characterized, in a typical patient, by a flat face, flat and broad nasal bridge, and hypertelorism. Facial features are thought to mirror the extent of intrauterine facial lymphedema, or may be caused by lymphatic obstruction that affects the early migration of neural crest tissue. Other anomalies have included glaucoma, dental anomalies, hearing loss, and renal anomalies. The psychomotor development varies widely, even within a single family, from almost normal development to severe mental retardation. Convulsions are common. The existence of 10 familial cases, equal sex ratio, increased parental consanguinity rate (4/20 families), and absence of vertical transmission are consistent with an autosomal recessive pattern of inheritance. It seems likely that most (but not all) manifestations of the entity can be explained as sequences of impaired prenatal and postnatal lymphatic flow, suggesting that the causative gene(s) should have a major function in lymphangiogenesis.

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Pascal:03-0022921

Le document en format XML

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<term>Concomitant disease</term>
<term>Consanguinity</term>
<term>Family study</term>
<term>Genetic determinism</term>
<term>Hennekam syndrome</term>
<term>Human</term>
<term>Lymphangiectasis</term>
<term>Lymphedema</term>
<term>Mental retardation</term>
<term>Pathogenesis</term>
<term>Phenotype</term>
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<term>Etude cas</term>
<term>Consanguinité</term>
<term>Déterminisme génétique</term>
<term>Pathogénie</term>
<term>Etude familiale</term>
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<front><div type="abstract" xml:lang="en">The Hennekam syndrome is an infrequently reported heritable entity characterized by lymphedema, lymphangiectasia, and developmental delay. Here we add an additional 8 patients, and compare their findings to the 16 cases from the literature. The lymphedema is usually congenital, can be markedly asymmetrical, and, often, gradually progressive. Complications such as erysipelas are common. The lymphangiectasias are present in the intestines, but have also been found in the pleura, pericardium, thyroid gland, and kidney. Several patients have demonstrated congenital cardiac and blood vessel anomalies, pointing to a disturbance of angiogenesis in at least some of the patients. Facial features are variable, and are chiefly characterized, in a typical patient, by a flat face, flat and broad nasal bridge, and hypertelorism. Facial features are thought to mirror the extent of intrauterine facial lymphedema, or may be caused by lymphatic obstruction that affects the early migration of neural crest tissue. Other anomalies have included glaucoma, dental anomalies, hearing loss, and renal anomalies. The psychomotor development varies widely, even within a single family, from almost normal development to severe mental retardation. Convulsions are common. The existence of 10 familial cases, equal sex ratio, increased parental consanguinity rate (4/20 families), and absence of vertical transmission are consistent with an autosomal recessive pattern of inheritance. It seems likely that most (but not all) manifestations of the entity can be explained as sequences of impaired prenatal and postnatal lymphatic flow, suggesting that the causative gene(s) should have a major function in lymphangiogenesis.</div>
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</affiliations>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/Main/Merge

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 009C75 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/Main/Merge/biblio.hfd -nk 009C75 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Sante
   |area=    LymphedemaV1
   |flux=    Main
   |étape=   Merge
   |type=    RBID
   |clé=     Pascal:03-0022921
   |texte=   Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: A review
}}

This area was generated with Dilib version V0.6.31.
Data generation: Sat Nov 4 17:40:35 2017. Site generation: Tue Feb 13 16:42:16 2024

	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.

Serveur d'exploration sur le lymphœdème

Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: A review

Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: A review

Source :

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Abstract

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