LymphedemaV1, Istex, Curation, bibRecord, 003181

Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation

Identifieur interne : 003181 ( Istex/Curation ); précédent : 003180; suivant : 003182

Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation

Auteurs : R. C. M. Hennekam [Pays-Bas] ; R. A. Geerdink [Pays-Bas] ; B. C. J. Hamel [Pays-Bas] ; F. A. M. Hennekam [Pays-Bas] ; P. Kraus [Pays-Bas] ; J. A. Rammeloo [Pays-Bas] ; A. A. W. Tillemans [Pays-Bas]

Source :

American Journal of Medical Genetics [ 0148-7299 ] ; 1989-12.

RBID : ISTEX:6A880DE75032292BB25CC052C61D0E3526DD634E

Abstract

We report on two male and two female relatives with intestinal lymphangiectasia; severe lymphedema of limbs, genitalia, and face; facial anomalies; seizures; mild growth retardation; and moderate mental retardation. Main facial anomalies are a flat face, flat nasal bridge, hypertelorism, small mouth, tooth anomalies, and ear defects. Their parents are consanguineous. This disorder probably is an hitherto undescribed autosomal recessive syndrome.

Url:

https://api.istex.fr/document/6A880DE75032292BB25CC052C61D0E3526DD634E/fulltext/pdf

DOI: 10.1002/ajmg.1320340429

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

to stream Istex, to step Corpus: Pour aller vers cette notice dans l'étape Curation :003181

Links to Exploration step

ISTEX:6A880DE75032292BB25CC052C61D0E3526DD634E

Le document en format XML

<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation</title>
<author><name sortKey="Hennekam, R C M" sort="Hennekam, R C M" uniqKey="Hennekam R" first="R. C. M." last="Hennekam">R. C. M. Hennekam</name>
<affiliation wicri:level="1"><mods:affiliation>Clinical Genetics Center Utrecht, Utrecht, The Netherlands</mods:affiliation>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Clinical Genetics Center Utrecht, Utrecht</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><mods:affiliation>Clinical Genetics Center Utrecht, P.O. Box 18009, 3501 CA Utrecht. The Netherlands</mods:affiliation>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Clinical Genetics Center Utrecht, P.O. Box 18009</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Geerdink, R A" sort="Geerdink, R A" uniqKey="Geerdink R" first="R. A." last="Geerdink">R. A. Geerdink</name>
<affiliation wicri:level="1"><mods:affiliation>Elisabeth Ziekenhuis, Amersfoort, The Netherlands</mods:affiliation>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Elisabeth Ziekenhuis, Amersfoort</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Hamel, B C J" sort="Hamel, B C J" uniqKey="Hamel B" first="B. C. J." last="Hamel">B. C. J. Hamel</name>
<affiliation wicri:level="1"><mods:affiliation>Institute of Human Genetics, Academic Hospital Nijmegen, Nijmegen, The Netherlands</mods:affiliation>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Institute of Human Genetics, Academic Hospital Nijmegen, Nijmegen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Hennekam, F A M" sort="Hennekam, F A M" uniqKey="Hennekam F" first="F. A. M." last="Hennekam">F. A. M. Hennekam</name>
<affiliation wicri:level="1"><mods:affiliation>Clinical Genetics Center Utrecht, Utrecht, The Netherlands</mods:affiliation>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Clinical Genetics Center Utrecht, Utrecht</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Kraus, P" sort="Kraus, P" uniqKey="Kraus P" first="P." last="Kraus">P. Kraus</name>
<affiliation wicri:level="1"><mods:affiliation>Elisabeth Ziekenhuis, Amersfoort, The Netherlands</mods:affiliation>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Elisabeth Ziekenhuis, Amersfoort</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Rammeloo, J A" sort="Rammeloo, J A" uniqKey="Rammeloo J" first="J. A." last="Rammeloo">J. A. Rammeloo</name>
<affiliation wicri:level="1"><mods:affiliation>Elisabeth Ziekenhuis, Tilburg, The Netherlands</mods:affiliation>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Elisabeth Ziekenhuis, Tilburg</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Tillemans, A A W" sort="Tillemans, A A W" uniqKey="Tillemans A" first="A. A. W." last="Tillemans">A. A. W. Tillemans</name>
<affiliation wicri:level="1"><mods:affiliation>Huize Vincentius, Udenhout, The Netherlands</mods:affiliation>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Huize Vincentius, Udenhout</wicri:regionArea>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">ISTEX</idno>
<idno type="RBID">ISTEX:6A880DE75032292BB25CC052C61D0E3526DD634E</idno>
<date when="1989" year="1989">1989</date>
<idno type="doi">10.1002/ajmg.1320340429</idno>
<idno type="url">https://api.istex.fr/document/6A880DE75032292BB25CC052C61D0E3526DD634E/fulltext/pdf</idno>
<idno type="wicri:Area/Istex/Corpus">003181</idno>
<idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">003181</idno>
<idno type="wicri:Area/Istex/Curation">003181</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation</title>
<author><name sortKey="Hennekam, R C M" sort="Hennekam, R C M" uniqKey="Hennekam R" first="R. C. M." last="Hennekam">R. C. M. Hennekam</name>
<affiliation wicri:level="1"><mods:affiliation>Clinical Genetics Center Utrecht, Utrecht, The Netherlands</mods:affiliation>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Clinical Genetics Center Utrecht, Utrecht</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><mods:affiliation>Clinical Genetics Center Utrecht, P.O. Box 18009, 3501 CA Utrecht. The Netherlands</mods:affiliation>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Clinical Genetics Center Utrecht, P.O. Box 18009</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Geerdink, R A" sort="Geerdink, R A" uniqKey="Geerdink R" first="R. A." last="Geerdink">R. A. Geerdink</name>
<affiliation wicri:level="1"><mods:affiliation>Elisabeth Ziekenhuis, Amersfoort, The Netherlands</mods:affiliation>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Elisabeth Ziekenhuis, Amersfoort</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Hamel, B C J" sort="Hamel, B C J" uniqKey="Hamel B" first="B. C. J." last="Hamel">B. C. J. Hamel</name>
<affiliation wicri:level="1"><mods:affiliation>Institute of Human Genetics, Academic Hospital Nijmegen, Nijmegen, The Netherlands</mods:affiliation>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Institute of Human Genetics, Academic Hospital Nijmegen, Nijmegen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Hennekam, F A M" sort="Hennekam, F A M" uniqKey="Hennekam F" first="F. A. M." last="Hennekam">F. A. M. Hennekam</name>
<affiliation wicri:level="1"><mods:affiliation>Clinical Genetics Center Utrecht, Utrecht, The Netherlands</mods:affiliation>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Clinical Genetics Center Utrecht, Utrecht</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Kraus, P" sort="Kraus, P" uniqKey="Kraus P" first="P." last="Kraus">P. Kraus</name>
<affiliation wicri:level="1"><mods:affiliation>Elisabeth Ziekenhuis, Amersfoort, The Netherlands</mods:affiliation>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Elisabeth Ziekenhuis, Amersfoort</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Rammeloo, J A" sort="Rammeloo, J A" uniqKey="Rammeloo J" first="J. A." last="Rammeloo">J. A. Rammeloo</name>
<affiliation wicri:level="1"><mods:affiliation>Elisabeth Ziekenhuis, Tilburg, The Netherlands</mods:affiliation>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Elisabeth Ziekenhuis, Tilburg</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Tillemans, A A W" sort="Tillemans, A A W" uniqKey="Tillemans A" first="A. A. W." last="Tillemans">A. A. W. Tillemans</name>
<affiliation wicri:level="1"><mods:affiliation>Huize Vincentius, Udenhout, The Netherlands</mods:affiliation>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Huize Vincentius, Udenhout</wicri:regionArea>
</affiliation>
</author>
</analytic>
<monogr></monogr>
<series><title level="j" type="main">American Journal of Medical Genetics</title>
<title level="j" type="alt">AMERICAN JOURNAL OF MEDICAL GENETICS</title>
<idno type="ISSN">0148-7299</idno>
<idno type="eISSN">1096-8628</idno>
<imprint><biblScope unit="vol">34</biblScope>
<biblScope unit="issue">4</biblScope>
<biblScope unit="page" from="593">593</biblScope>
<biblScope unit="page" to="600">600</biblScope>
<biblScope unit="page-count">8</biblScope>
<publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher>
<pubPlace>New York</pubPlace>
<date type="published" when="1989-12">1989-12</date>
</imprint>
<idno type="ISSN">0148-7299</idno>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><idno type="ISSN">0148-7299</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">We report on two male and two female relatives with intestinal lymphangiectasia; severe lymphedema of limbs, genitalia, and face; facial anomalies; seizures; mild growth retardation; and moderate mental retardation. Main facial anomalies are a flat face, flat nasal bridge, hypertelorism, small mouth, tooth anomalies, and ear defects. Their parents are consanguineous. This disorder probably is an hitherto undescribed autosomal recessive syndrome.</div>
</front>
</TEI>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/Istex/Curation

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 003181 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/Istex/Curation/biblio.hfd -nk 003181 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Sante
   |area=    LymphedemaV1
   |flux=    Istex
   |étape=   Curation
   |type=    RBID
   |clé=     ISTEX:6A880DE75032292BB25CC052C61D0E3526DD634E
   |texte=   Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation
}}

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

Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation

Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation

Source :

Abstract

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

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