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Further delineation of Hennekam syndrome.

Identifieur interne : 008E93 ( Main/Curation ); précédent : 008E92; suivant : 008E94

Further delineation of Hennekam syndrome.

Auteurs : L I Al-Gazali ; J. Hertecant ; R. Ahmed ; N A Khan ; R. Padmanabhan

Source :

Clinical dysmorphology [ 0962-8827 ] ; 2003.

RBID : pubmed:14564208

Descripteurs français

KwdFr :
- Arabes, Déficience intellectuelle (anatomopathologie), Enfant, Femelle, Humains, Lymphangiectasie (anatomopathologie), Lymphoedème (anatomopathologie), Malformations multiples (anatomopathologie), Mâle, Nourrisson.
MESH :
- anatomopathologie : Déficience intellectuelle, Lymphangiectasie, Lymphoedème, Malformations multiples.
- Arabes, Enfant, Femelle, Humains, Mâle, Nourrisson.

English descriptors

KwdEn :
- Abnormalities, Multiple (pathology), Arabs, Child, Female, Humans, Infant, Intellectual Disability (pathology), Lymphangiectasis (pathology), Lymphedema (pathology), Male.
MESH :
- pathology : Abnormalities, Multiple, Intellectual Disability, Lymphangiectasis, Lymphedema.
- Arabs, Child, Female, Humans, Infant, Male.

Abstract

We report four children from four inbred Arab families with varying manifestations of Hennekam syndrome and additional features that have not been previously reported. These include abnormalities of the middle ear, anomalous pulmonary venous drainage, interrupted inferior vena cava, polysplenia, crossed renal ectopia, median position of the liver and multiple cavernous haemangiomas. In addition, in one case lymphoedema was absent and oedema due to hypoproteinaemia appeared at 6 years of age. Since anomalies of the veins and the consequent developmental abnormalities of the lymphatics might lead to alterations in the fluid balance of the embryo, we hypothesize that altered fluid dynamics due to defective vascular and lymphatic development might disrupt critical events in craniofacial morphogenesis resulting in Hennekam syndrome.

DOI: 10.1097/01.mcd.0000091149.74999.a5
PubMed: 14564208

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L I Al-Gazali

<affiliation><nlm:affiliation>Department of Paediatrics and Anatomy, Faculty of Medicine and Health Sciences, UAE University, Al Ain, UAE. algazali@hotmail.com</nlm:affiliation>
<wicri:noCountry code="subField">UAE</wicri:noCountry>
</affiliation>

Le document en format XML

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<term>Arabs</term>
<term>Child</term>
<term>Female</term>
<term>Humans</term>
<term>Infant</term>
<term>Intellectual Disability (pathology)</term>
<term>Lymphangiectasis (pathology)</term>
<term>Lymphedema (pathology)</term>
<term>Male</term>
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<keywords scheme="KwdFr" xml:lang="fr"><term>Arabes</term>
<term>Déficience intellectuelle (anatomopathologie)</term>
<term>Enfant</term>
<term>Femelle</term>
<term>Humains</term>
<term>Lymphangiectasie (anatomopathologie)</term>
<term>Lymphoedème (anatomopathologie)</term>
<term>Malformations multiples (anatomopathologie)</term>
<term>Mâle</term>
<term>Nourrisson</term>
</keywords>
<keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Déficience intellectuelle</term>
<term>Lymphangiectasie</term>
<term>Lymphoedème</term>
<term>Malformations multiples</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Abnormalities, Multiple</term>
<term>Intellectual Disability</term>
<term>Lymphangiectasis</term>
<term>Lymphedema</term>
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<term>Child</term>
<term>Female</term>
<term>Humans</term>
<term>Infant</term>
<term>Male</term>
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<term>Enfant</term>
<term>Femelle</term>
<term>Humains</term>
<term>Mâle</term>
<term>Nourrisson</term>
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<front><div type="abstract" xml:lang="en">We report four children from four inbred Arab families with varying manifestations of Hennekam syndrome and additional features that have not been previously reported. These include abnormalities of the middle ear, anomalous pulmonary venous drainage, interrupted inferior vena cava, polysplenia, crossed renal ectopia, median position of the liver and multiple cavernous haemangiomas. In addition, in one case lymphoedema was absent and oedema due to hypoproteinaemia appeared at 6 years of age. Since anomalies of the veins and the consequent developmental abnormalities of the lymphatics might lead to alterations in the fluid balance of the embryo, we hypothesize that altered fluid dynamics due to defective vascular and lymphatic development might disrupt critical events in craniofacial morphogenesis resulting in Hennekam syndrome.</div>
</front>
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Further delineation of Hennekam syndrome.

Further delineation of Hennekam syndrome.

Source :

Descripteurs français

English descriptors

Abstract

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

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Curation

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Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

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Pour générer des pages wiki