LymphedemaV1, Main, Exploration, bibRecordById, Pascal:99-0047458

Microcephaly‐lymphedema syndrome: Report of a family with short stature as additional manifestation

Identifieur interne : 00B465 ( Main/Exploration ); précédent : 00B464; suivant : 00B466

Microcephaly‐lymphedema syndrome: Report of a family with short stature as additional manifestation

Auteurs : Sibylle Strenge [Allemagne] ; Ursula G. Froster [Allemagne]

Source :

American Journal of Medical Genetics [ 0148-7299 ] ; 1998-12-28.

RBID : ISTEX:64FE25E62163035F73824C25865E85A91EFD818C

Descripteurs français

KwdFr :
- Adulte, Enfant, Femelle, Humains, Lymphoedème (génétique), Microcéphalie (génétique), Mâle, Pedigree, Syndrome, Troubles de la croissance (génétique).
MESH :
- génétique : Lymphoedème, Microcéphalie, Troubles de la croissance.
Pascal (Inist)
- Adulte, Association, Enfant, Etude cas, Etude familiale, Femelle, Homme, Humains, Hérédité, Lymphoedème, Microcéphalie, Mâle, Pedigree, Phénotype, Syndrome, Taille corporelle.
Wicri :
- topic : Association, Homme.

English descriptors

KwdEn :
- Adult, Association, Body size, Case study, Child, Family study, Female, Growth Disorders (genetics), Human, Humans, Inheritance(genetics), Lymphedema, Lymphedema (genetics), Male, Microcephaly, Microcephaly (genetics), Pedigree, Phenotype, Syndrome.
MESH :
- genetics : Growth Disorders, Lymphedema, Microcephaly.
- Adult, Child, Female, Humans, Male, Pedigree, Syndrome.

Abstract

Patients with the rare autosomal dominant microcephaly‐lymphedema syndrome have apparently normal intelligence. We report on a boy with microcephaly, lymphedema, and short stature as an additional manifestation. The family history of our patient suggests autosomal dominant inheritance with reduced penetrance and variable expressivity. However, X‐linked inheritance cannot be excluded. Am. J. Med. Genet. 80:506–509, 1998. © 1998 Wiley‐Liss, Inc.

Url:

https://api.istex.fr/document/64FE25E62163035F73824C25865E85A91EFD818C/fulltext/pdf

DOI: 10.1002/(SICI)1096-8628(19981228)80:5<506::AID-AJMG13>3.0.CO;2-1

Affiliations:

Le document en format XML

<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Microcephaly‐lymphedema syndrome: Report of a family with short stature as additional manifestation</title>
<author><name sortKey="Strenge, Sibylle" sort="Strenge, Sibylle" uniqKey="Strenge S" first="Sibylle" last="Strenge">Sibylle Strenge</name>
</author>
<author><name sortKey="Froster, Ursula G" sort="Froster, Ursula G" uniqKey="Froster U" first="Ursula G." last="Froster">Ursula G. Froster</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">ISTEX</idno>
<idno type="RBID">ISTEX:64FE25E62163035F73824C25865E85A91EFD818C</idno>
<date when="1998" year="1998">1998</date>
<idno type="doi">10.1002/(SICI)1096-8628(19981228)80:5<506::AID-AJMG13>3.0.CO;2-1</idno>
<idno type="url">https://api.istex.fr/document/64FE25E62163035F73824C25865E85A91EFD818C/fulltext/pdf</idno>
<idno type="wicri:Area/Istex/Corpus">002F22</idno>
<idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">002F22</idno>
<idno type="wicri:Area/Istex/Curation">002F22</idno>
<idno type="wicri:Area/Istex/Checkpoint">003C00</idno>
<idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Checkpoint">003C00</idno>
<idno type="wicri:doubleKey">0148-7299:1998:Strenge S:microcephaly:lymphedema:syndrome</idno>
<idno type="wicri:Area/Main/Merge">00BB78</idno>
<idno type="wicri:source">INIST</idno>
<idno type="RBID">Pascal:99-0047458</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">000A56</idno>
<idno type="wicri:Area/PascalFrancis/Curation">001052</idno>
<idno type="wicri:Area/PascalFrancis/Checkpoint">000A62</idno>
<idno type="wicri:explorRef" wicri:stream="PascalFrancis" wicri:step="Checkpoint">000A62</idno>
<idno type="wicri:doubleKey">0148-7299:1998:Strenge S:microcephaly:lymphedema:syndrome</idno>
<idno type="wicri:Area/Main/Merge">00BD86</idno>
<idno type="wicri:source">PubMed</idno>
<idno type="RBID">pubmed:9880217</idno>
<idno type="wicri:Area/PubMed/Corpus">004D49</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">004D49</idno>
<idno type="wicri:Area/PubMed/Curation">004D49</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">004D49</idno>
<idno type="wicri:Area/PubMed/Checkpoint">004D49</idno>
<idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">004D49</idno>
<idno type="wicri:Area/Ncbi/Merge">00BD72</idno>
<idno type="wicri:Area/Ncbi/Curation">00BD72</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">00BD72</idno>
<idno type="wicri:doubleKey">0148-7299:1998:Strenge S:microcephaly:lymphedema:syndrome</idno>
<idno type="wicri:Area/Main/Merge">00B759</idno>
<idno type="wicri:Area/Main/Curation">00B465</idno>
<idno type="wicri:Area/Main/Exploration">00B465</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Microcephaly‐lymphedema syndrome: Report of a family with short stature as additional manifestation</title>
<author><name sortKey="Strenge, Sibylle" sort="Strenge, Sibylle" uniqKey="Strenge S" first="Sibylle" last="Strenge">Sibylle Strenge</name>
<affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institut für Humangenetik, Universität Leipzig, Leipzig</wicri:regionArea>
<placeName><region type="land" nuts="1">Saxe (Land)</region>
<region type="district" nuts="2">District de Leipzig</region>
<settlement type="city">Leipzig</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institut für Humangenetik, Universität Leipzig, Philipp‐Rosenthal‐Str. 55, D‐04103 Leipzig</wicri:regionArea>
<placeName><region type="land" nuts="1">Saxe (Land)</region>
<region type="district" nuts="2">District de Leipzig</region>
<settlement type="city">Leipzig</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Froster, Ursula G" sort="Froster, Ursula G" uniqKey="Froster U" first="Ursula G." last="Froster">Ursula G. Froster</name>
<affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institut für Humangenetik, Universität Leipzig, Leipzig</wicri:regionArea>
<placeName><region type="land" nuts="1">Saxe (Land)</region>
<region type="district" nuts="2">District de Leipzig</region>
<settlement type="city">Leipzig</settlement>
</placeName>
</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">80</biblScope>
<biblScope unit="issue">5</biblScope>
<biblScope unit="page" from="506">506</biblScope>
<biblScope unit="page" to="509">509</biblScope>
<biblScope unit="page-count">4</biblScope>
<publisher>John Wiley & Sons, Inc.</publisher>
<pubPlace>New York</pubPlace>
<date type="published" when="1998-12-28">1998-12-28</date>
</imprint>
<idno type="ISSN">0148-7299</idno>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><idno type="ISSN">0148-7299</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term>
<term>Association</term>
<term>Body size</term>
<term>Case study</term>
<term>Child</term>
<term>Family study</term>
<term>Female</term>
<term>Growth Disorders (genetics)</term>
<term>Human</term>
<term>Humans</term>
<term>Inheritance(genetics)</term>
<term>Lymphedema</term>
<term>Lymphedema (genetics)</term>
<term>Male</term>
<term>Microcephaly</term>
<term>Microcephaly (genetics)</term>
<term>Pedigree</term>
<term>Phenotype</term>
<term>Syndrome</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Adulte</term>
<term>Enfant</term>
<term>Femelle</term>
<term>Humains</term>
<term>Lymphoedème (génétique)</term>
<term>Microcéphalie (génétique)</term>
<term>Mâle</term>
<term>Pedigree</term>
<term>Syndrome</term>
<term>Troubles de la croissance (génétique)</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Growth Disorders</term>
<term>Lymphedema</term>
<term>Microcephaly</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Lymphoedème</term>
<term>Microcéphalie</term>
<term>Troubles de la croissance</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Child</term>
<term>Female</term>
<term>Humans</term>
<term>Male</term>
<term>Pedigree</term>
<term>Syndrome</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Adulte</term>
<term>Association</term>
<term>Enfant</term>
<term>Etude cas</term>
<term>Etude familiale</term>
<term>Femelle</term>
<term>Homme</term>
<term>Humains</term>
<term>Hérédité</term>
<term>Lymphoedème</term>
<term>Microcéphalie</term>
<term>Mâle</term>
<term>Pedigree</term>
<term>Phénotype</term>
<term>Syndrome</term>
<term>Taille corporelle</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Association</term>
<term>Homme</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Patients with the rare autosomal dominant microcephaly‐lymphedema syndrome have apparently normal intelligence. We report on a boy with microcephaly, lymphedema, and short stature as an additional manifestation. The family history of our patient suggests autosomal dominant inheritance with reduced penetrance and variable expressivity. However, X‐linked inheritance cannot be excluded. Am. J. Med. Genet. 80:506–509, 1998. © 1998 Wiley‐Liss, Inc.</div>
</front>
</TEI>
<affiliations><list><country><li>Allemagne</li>
</country>
<region><li>District de Leipzig</li>
<li>Saxe (Land)</li>
</region>
<settlement><li>Leipzig</li>
</settlement>
</list>
<tree><country name="Allemagne"><region name="Saxe (Land)"><name sortKey="Strenge, Sibylle" sort="Strenge, Sibylle" uniqKey="Strenge S" first="Sibylle" last="Strenge">Sibylle Strenge</name>
</region>
<name sortKey="Froster, Ursula G" sort="Froster, Ursula G" uniqKey="Froster U" first="Ursula G." last="Froster">Ursula G. Froster</name>
<name sortKey="Strenge, Sibylle" sort="Strenge, Sibylle" uniqKey="Strenge S" first="Sibylle" last="Strenge">Sibylle Strenge</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 00B465 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 00B465 | 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=     ISTEX:64FE25E62163035F73824C25865E85A91EFD818C
   |texte=   Microcephaly‐lymphedema syndrome: Report of a family with short stature as additional manifestation
}}

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

Microcephaly‐lymphedema syndrome: Report of a family with short stature as additional manifestation

Microcephaly‐lymphedema syndrome: Report of a family with short stature as additional manifestation

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

	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.