Hennekam lymphangiectasia syndrome
Identifieur interne : 004E49 ( Main/Exploration ); précédent : 004E48; suivant : 004E50Hennekam lymphangiectasia syndrome
Auteurs : G. Lakshminarayana [Inde] ; A. Mathew [Inde] ; R. Rajesh [Inde] ; G. Kurien [Inde] ; V. N. Unni [Inde]Source :
- Indian Journal of Nephrology [ 0971-4065 ] ; 2011.
Abstract
Hennekam lymphangiectasia syndrome is a rare disorder comprising of intestinal and renal lymphangiectasia, dysmorphic facial appearance and mental retardation. The facial features include hypertelorism with a wide, flat nasal bridge, epicanthic folds, small mouth and small ears. We describe a case of a multigravida with bad obstetric history and characteristic facial and dental anomalies and bilateral renal lymphangiectasia. To our knowledge this is the first case of Hennekam lymphangiectasia syndrome with anodontia to be reported from India.
Url:
DOI: 10.4103/0971-4065.78068
PubMed: 22022089
PubMed Central: 3193672
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream Pmc, to step Corpus: 002242
- to stream Pmc, to step Curation: 002241
- to stream Pmc, to step Checkpoint: 002F42
- to stream Ncbi, to step Merge: 004760
- to stream Ncbi, to step Curation: 004760
- to stream Ncbi, to step Checkpoint: 004760
- to stream Main, to step Merge: 004E85
- to stream Main, to step Curation: 004E49
Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Hennekam lymphangiectasia syndrome</title>
<author><name sortKey="Lakshminarayana, G" sort="Lakshminarayana, G" uniqKey="Lakshminarayana G" first="G." last="Lakshminarayana">G. Lakshminarayana</name>
<affiliation wicri:level="1"><nlm:aff id="aff1">Department of Nephrology, Amrita Institute of Medical Sciences & Research Center, Kochi, India</nlm:aff>
<country xml:lang="fr">Inde</country>
<wicri:regionArea>Department of Nephrology, Amrita Institute of Medical Sciences & Research Center, Kochi</wicri:regionArea>
<wicri:noRegion>Kochi</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mathew, A" sort="Mathew, A" uniqKey="Mathew A" first="A." last="Mathew">A. Mathew</name>
<affiliation wicri:level="1"><nlm:aff id="aff1">Department of Nephrology, Amrita Institute of Medical Sciences & Research Center, Kochi, India</nlm:aff>
<country xml:lang="fr">Inde</country>
<wicri:regionArea>Department of Nephrology, Amrita Institute of Medical Sciences & Research Center, Kochi</wicri:regionArea>
<wicri:noRegion>Kochi</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Rajesh, R" sort="Rajesh, R" uniqKey="Rajesh R" first="R." last="Rajesh">R. Rajesh</name>
<affiliation wicri:level="1"><nlm:aff id="aff1">Department of Nephrology, Amrita Institute of Medical Sciences & Research Center, Kochi, India</nlm:aff>
<country xml:lang="fr">Inde</country>
<wicri:regionArea>Department of Nephrology, Amrita Institute of Medical Sciences & Research Center, Kochi</wicri:regionArea>
<wicri:noRegion>Kochi</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kurien, G" sort="Kurien, G" uniqKey="Kurien G" first="G." last="Kurien">G. Kurien</name>
<affiliation wicri:level="1"><nlm:aff id="aff1">Department of Nephrology, Amrita Institute of Medical Sciences & Research Center, Kochi, India</nlm:aff>
<country xml:lang="fr">Inde</country>
<wicri:regionArea>Department of Nephrology, Amrita Institute of Medical Sciences & Research Center, Kochi</wicri:regionArea>
<wicri:noRegion>Kochi</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Unni, V N" sort="Unni, V N" uniqKey="Unni V" first="V. N." last="Unni">V. N. Unni</name>
<affiliation wicri:level="1"><nlm:aff id="aff1">Department of Nephrology, Amrita Institute of Medical Sciences & Research Center, Kochi, India</nlm:aff>
<country xml:lang="fr">Inde</country>
<wicri:regionArea>Department of Nephrology, Amrita Institute of Medical Sciences & Research Center, Kochi</wicri:regionArea>
<wicri:noRegion>Kochi</wicri:noRegion>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PMC</idno>
<idno type="pmid">22022089</idno>
<idno type="pmc">3193672</idno>
<idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3193672</idno>
<idno type="RBID">PMC:3193672</idno>
<idno type="doi">10.4103/0971-4065.78068</idno>
<date when="2011">2011</date>
<idno type="wicri:Area/Pmc/Corpus">002242</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">002242</idno>
<idno type="wicri:Area/Pmc/Curation">002241</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">002241</idno>
<idno type="wicri:Area/Pmc/Checkpoint">002F42</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">002F42</idno>
<idno type="wicri:Area/Ncbi/Merge">004760</idno>
<idno type="wicri:Area/Ncbi/Curation">004760</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">004760</idno>
<idno type="wicri:doubleKey">0971-4065:2011:Lakshminarayana G:hennekam:lymphangiectasia:syndrome</idno>
<idno type="wicri:Area/Main/Merge">004E85</idno>
<idno type="wicri:Area/Main/Curation">004E49</idno>
<idno type="wicri:Area/Main/Exploration">004E49</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Hennekam lymphangiectasia syndrome</title>
<author><name sortKey="Lakshminarayana, G" sort="Lakshminarayana, G" uniqKey="Lakshminarayana G" first="G." last="Lakshminarayana">G. Lakshminarayana</name>
<affiliation wicri:level="1"><nlm:aff id="aff1">Department of Nephrology, Amrita Institute of Medical Sciences & Research Center, Kochi, India</nlm:aff>
<country xml:lang="fr">Inde</country>
<wicri:regionArea>Department of Nephrology, Amrita Institute of Medical Sciences & Research Center, Kochi</wicri:regionArea>
<wicri:noRegion>Kochi</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mathew, A" sort="Mathew, A" uniqKey="Mathew A" first="A." last="Mathew">A. Mathew</name>
<affiliation wicri:level="1"><nlm:aff id="aff1">Department of Nephrology, Amrita Institute of Medical Sciences & Research Center, Kochi, India</nlm:aff>
<country xml:lang="fr">Inde</country>
<wicri:regionArea>Department of Nephrology, Amrita Institute of Medical Sciences & Research Center, Kochi</wicri:regionArea>
<wicri:noRegion>Kochi</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Rajesh, R" sort="Rajesh, R" uniqKey="Rajesh R" first="R." last="Rajesh">R. Rajesh</name>
<affiliation wicri:level="1"><nlm:aff id="aff1">Department of Nephrology, Amrita Institute of Medical Sciences & Research Center, Kochi, India</nlm:aff>
<country xml:lang="fr">Inde</country>
<wicri:regionArea>Department of Nephrology, Amrita Institute of Medical Sciences & Research Center, Kochi</wicri:regionArea>
<wicri:noRegion>Kochi</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kurien, G" sort="Kurien, G" uniqKey="Kurien G" first="G." last="Kurien">G. Kurien</name>
<affiliation wicri:level="1"><nlm:aff id="aff1">Department of Nephrology, Amrita Institute of Medical Sciences & Research Center, Kochi, India</nlm:aff>
<country xml:lang="fr">Inde</country>
<wicri:regionArea>Department of Nephrology, Amrita Institute of Medical Sciences & Research Center, Kochi</wicri:regionArea>
<wicri:noRegion>Kochi</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Unni, V N" sort="Unni, V N" uniqKey="Unni V" first="V. N." last="Unni">V. N. Unni</name>
<affiliation wicri:level="1"><nlm:aff id="aff1">Department of Nephrology, Amrita Institute of Medical Sciences & Research Center, Kochi, India</nlm:aff>
<country xml:lang="fr">Inde</country>
<wicri:regionArea>Department of Nephrology, Amrita Institute of Medical Sciences & Research Center, Kochi</wicri:regionArea>
<wicri:noRegion>Kochi</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series><title level="j">Indian Journal of Nephrology</title>
<idno type="ISSN">0971-4065</idno>
<idno type="eISSN">1998-3662</idno>
<imprint><date when="2011">2011</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p>Hennekam lymphangiectasia syndrome is a rare disorder comprising of intestinal and renal lymphangiectasia, dysmorphic facial appearance and mental retardation. The facial features include hypertelorism with a wide, flat nasal bridge, epicanthic folds, small mouth and small ears. We describe a case of a multigravida with bad obstetric history and characteristic facial and dental anomalies and bilateral renal lymphangiectasia. To our knowledge this is the first case of Hennekam lymphangiectasia syndrome with anodontia to be reported from India.</p>
</div>
</front>
<back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Hennekam, Rc" uniqKey="Hennekam R">RC Hennekam</name>
</author>
<author><name sortKey="Geerdink, Ra" uniqKey="Geerdink R">RA Geerdink</name>
</author>
<author><name sortKey="Hamel, Bc" uniqKey="Hamel B">BC Hamel</name>
</author>
<author><name sortKey="Hennekam, Fa" uniqKey="Hennekam F">FA Hennekam</name>
</author>
<author><name sortKey="Kraus, P" uniqKey="Kraus P">P Kraus</name>
</author>
<author><name sortKey="Rammeloo, Ja" uniqKey="Rammeloo J">JA Rammeloo</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Cormier Daire, V" uniqKey="Cormier Daire V">V Cormier-Daire</name>
</author>
<author><name sortKey="Lyonnet, S" uniqKey="Lyonnet S">S Lyonnet</name>
</author>
<author><name sortKey="Lehnert, A" uniqKey="Lehnert A">A Lehnert</name>
</author>
<author><name sortKey="Martin, D" uniqKey="Martin D">D Martin</name>
</author>
<author><name sortKey="Salomon, R" uniqKey="Salomon R">R Salomon</name>
</author>
<author><name sortKey="Patey, N" uniqKey="Patey N">N Patey</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Orazio, G" uniqKey="Orazio G">G Orazio</name>
</author>
<author><name sortKey="Carlo, C" uniqKey="Carlo C">C Carlo</name>
</author>
<author><name sortKey="Antonio, C" uniqKey="Antonio C">C Antonio</name>
</author>
<author><name sortKey="Giovanni, Vc" uniqKey="Giovanni V">VC Giovanni</name>
</author>
<author><name sortKey="Pierluigi, G" uniqKey="Pierluigi G">G Pierluigi</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Musumeci, Ml" uniqKey="Musumeci M">ML Musumeci</name>
</author>
<author><name sortKey="Nasca, Mr" uniqKey="Nasca M">MR Nasca</name>
</author>
<author><name sortKey="De Pasquale, R" uniqKey="De Pasquale R">R De Pasquale</name>
</author>
<author><name sortKey="Schwartz, Ra" uniqKey="Schwartz R">RA Schwartz</name>
</author>
<author><name sortKey="Micali, G" uniqKey="Micali G">G Micali</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Erkan, T" uniqKey="Erkan T">T Erkan</name>
</author>
<author><name sortKey="Kutlu, T" uniqKey="Kutlu T">T Kutlu</name>
</author>
<author><name sortKey="Cullu, F" uniqKey="Cullu F">F Cullu</name>
</author>
<author><name sortKey="Celik, M" uniqKey="Celik M">M Celik</name>
</author>
<author><name sortKey="Demir, T" uniqKey="Demir T">T Demir</name>
</author>
<author><name sortKey="Tuysuz, B" uniqKey="Tuysuz B">B Tüysüz</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Akyildiz, Bn" uniqKey="Akyildiz B">BN Akyildiz</name>
</author>
<author><name sortKey="Urganci, N" uniqKey="Urganci N">N Urganci</name>
</author>
<author><name sortKey="Kayserili, H" uniqKey="Kayserili H">H Kayserili</name>
</author>
<author><name sortKey="Rosi, Ro" uniqKey="Rosi R">RO Rosi</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Van Balkom, Id" uniqKey="Van Balkom I">ID Van Balkom</name>
</author>
<author><name sortKey="Alders, M" uniqKey="Alders M">M Alders</name>
</author>
<author><name sortKey="Allanson, J" uniqKey="Allanson J">J Allanson</name>
</author>
<author><name sortKey="Bellini, C" uniqKey="Bellini C">C Bellini</name>
</author>
<author><name sortKey="Frank, U" uniqKey="Frank U">U Frank</name>
</author>
<author><name sortKey="De Jong, G" uniqKey="De Jong G">G De Jong</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Marina, R" uniqKey="Marina R">R Marina</name>
</author>
<author><name sortKey="Lydie, A" uniqKey="Lydie A">A Lydie</name>
</author>
<author><name sortKey="Floriana, Z" uniqKey="Floriana Z">Z Floriana</name>
</author>
<author><name sortKey="Pierpaolo, G" uniqKey="Pierpaolo G">G Pierpaolo</name>
</author>
<author><name sortKey="Federico, M" uniqKey="Federico M">M Federico</name>
</author>
<author><name sortKey="Marzia, L" uniqKey="Marzia L">L Marzia</name>
</author>
</analytic>
</biblStruct>
<biblStruct></biblStruct>
<biblStruct><analytic><author><name sortKey="Alders, M" uniqKey="Alders M">M Alders</name>
</author>
<author><name sortKey="Hogan, Bm" uniqKey="Hogan B">BM Hogan</name>
</author>
<author><name sortKey="Gjini, E" uniqKey="Gjini E">E Gjini</name>
</author>
<author><name sortKey="Salehi, F" uniqKey="Salehi F">F Salehi</name>
</author>
<author><name sortKey="Al Gazali, L" uniqKey="Al Gazali L">L Al-Gazali</name>
</author>
<author><name sortKey="Hennekam, Ea" uniqKey="Hennekam E">EA Hennekam</name>
</author>
</analytic>
</biblStruct>
</listBibl>
</div1>
</back>
</TEI>
<affiliations><list><country><li>Inde</li>
</country>
</list>
<tree><country name="Inde"><noRegion><name sortKey="Lakshminarayana, G" sort="Lakshminarayana, G" uniqKey="Lakshminarayana G" first="G." last="Lakshminarayana">G. Lakshminarayana</name>
</noRegion>
<name sortKey="Kurien, G" sort="Kurien, G" uniqKey="Kurien G" first="G." last="Kurien">G. Kurien</name>
<name sortKey="Mathew, A" sort="Mathew, A" uniqKey="Mathew A" first="A." last="Mathew">A. Mathew</name>
<name sortKey="Rajesh, R" sort="Rajesh, R" uniqKey="Rajesh R" first="R." last="Rajesh">R. Rajesh</name>
<name sortKey="Unni, V N" sort="Unni, V N" uniqKey="Unni V" first="V. N." last="Unni">V. N. Unni</name>
</country>
</tree>
</affiliations>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 004E49 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 004E49 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Sante |area= LymphedemaV1 |flux= Main |étape= Exploration |type= RBID |clé= PMC:3193672 |texte= Hennekam lymphangiectasia syndrome }}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Main/Exploration/RBID.i -Sk "pubmed:22022089" \ | HfdSelect -Kh $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd \ | NlmPubMed2Wicri -a LymphedemaV1
This area was generated with Dilib version V0.6.31. |