AustralieFrV1, Main, Exploration, bibRecord, 00BF66

New mesomelic dysplasia with absent fibulae and triangular tibiae

Identifieur interne : 00BF66 ( Main/Exploration ); précédent : 00BF65; suivant : 00BF67

New mesomelic dysplasia with absent fibulae and triangular tibiae

Auteurs : Ravi Savarirayan [États-Unis, Australie] ; Valérie Cormier-Daire [États-Unis, France] ; Cynthia J. Curry [États-Unis] ; Marcus B. Nashelsky [États-Unis] ; Valerie Rappaport [États-Unis] ; David L. Rimoin [États-Unis] ; Ralph S. Lachman [États-Unis]

Source :

American Journal of Medical Genetics [ 0148-7299 ] ; 2000-09-04.

RBID : ISTEX:E7BC6497019DEAEF49D4A9DFB4D0FF03AE3B6908

Descripteurs français

Pascal (Inist)
- Agénésie, Enfant, Etude cas, Exploration, Hypoplasie, Malformation, Nanisme mésomélique, Nouveauté, Phénotype, Péroné, Radiographie, Tibia.
Wicri :
- topic : Enfant.

English descriptors

Abstract

We report on two unrelated, sporadic cases of a mesomelic dysplasia characterized by absence of fibulae and severely hypoplastic, triangular‐shaped tibiae. Moderate mesomelic shortness was present in the upper limbs with proximal widening of the ulnae. There was also axial skeletal involvement in both cases, characterized radiographically by an abnormal pelvis and marked bilateral glenoid hypoplasia. These cases appear to represent a new form of mesomelic dysplasia distinct from those previously delineated. Am. J. Med. Genet. 94:59–63, 2000. © 2000 Wiley‐Liss, Inc.

Url:

https://api.istex.fr/document/E7BC6497019DEAEF49D4A9DFB4D0FF03AE3B6908/fulltext/pdf

DOI: 10.1002/1096-8628(20000904)94:1<59::AID-AJMG12>3.0.CO;2-2

Affiliations:

Le document en format XML

<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">New mesomelic dysplasia with absent fibulae and triangular tibiae</title>
<author><name sortKey="Savarirayan, Ravi" sort="Savarirayan, Ravi" uniqKey="Savarirayan R" first="Ravi" last="Savarirayan">Ravi Savarirayan</name>
</author>
<author><name sortKey="Cormier Aire, Valerie" sort="Cormier Aire, Valerie" uniqKey="Cormier Aire V" first="Valérie" last="Cormier-Daire">Valérie Cormier-Daire</name>
</author>
<author><name sortKey="Curry, Cynthia J" sort="Curry, Cynthia J" uniqKey="Curry C" first="Cynthia J." last="Curry">Cynthia J. Curry</name>
</author>
<author><name sortKey="Nashelsky, Marcus B" sort="Nashelsky, Marcus B" uniqKey="Nashelsky M" first="Marcus B." last="Nashelsky">Marcus B. Nashelsky</name>
</author>
<author><name sortKey="Rappaport, Valerie" sort="Rappaport, Valerie" uniqKey="Rappaport V" first="Valerie" last="Rappaport">Valerie Rappaport</name>
</author>
<author><name sortKey="Rimoin, David L" sort="Rimoin, David L" uniqKey="Rimoin D" first="David L." last="Rimoin">David L. Rimoin</name>
</author>
<author><name sortKey="Lachman, Ralph S" sort="Lachman, Ralph S" uniqKey="Lachman R" first="Ralph S." last="Lachman">Ralph S. Lachman</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">ISTEX</idno>
<idno type="RBID">ISTEX:E7BC6497019DEAEF49D4A9DFB4D0FF03AE3B6908</idno>
<date when="2000" year="2000">2000</date>
<idno type="doi">10.1002/1096-8628(20000904)94:1<59::AID-AJMG12>3.0.CO;2-2</idno>
<idno type="url">https://api.istex.fr/document/E7BC6497019DEAEF49D4A9DFB4D0FF03AE3B6908/fulltext/pdf</idno>
<idno type="wicri:Area/Istex/Corpus">002B61</idno>
<idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">002B61</idno>
<idno type="wicri:Area/Istex/Curation">002B61</idno>
<idno type="wicri:Area/Istex/Checkpoint">002000</idno>
<idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Checkpoint">002000</idno>
<idno type="wicri:doubleKey">0148-7299:2000:Savarirayan R:new:mesomelic:dysplasia</idno>
<idno type="wicri:Area/Main/Merge">00CE79</idno>
<idno type="wicri:source">INIST</idno>
<idno type="RBID">Pascal:00-0465892</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">005E09</idno>
<idno type="wicri:Area/PascalFrancis/Curation">000361</idno>
<idno type="wicri:Area/PascalFrancis/Checkpoint">005B96</idno>
<idno type="wicri:explorRef" wicri:stream="PascalFrancis" wicri:step="Checkpoint">005B96</idno>
<idno type="wicri:doubleKey">0148-7299:2000:Savarirayan R:new:mesomelic:dysplasia</idno>
<idno type="wicri:Area/Main/Merge">00D144</idno>
<idno type="wicri:Area/Main/Curation">00BF66</idno>
<idno type="wicri:Area/Main/Exploration">00BF66</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">New mesomelic dysplasia with absent fibulae and triangular tibiae</title>
<author><name sortKey="Savarirayan, Ravi" sort="Savarirayan, Ravi" uniqKey="Savarirayan R" first="Ravi" last="Savarirayan">Ravi Savarirayan</name>
<affiliation wicri:level="2"><country>États-Unis</country>
<placeName><region type="state">Californie</region>
</placeName>
<wicri:cityArea>Medical Genetics Birth Defects Center, Steven Spielberg Pediatrics Research Center, Cedars‐Sinai Medical Center and UCLA School of Medicine, Los Angeles</wicri:cityArea>
</affiliation>
<affiliation wicri:level="1"><country xml:lang="fr">Australie</country>
<wicri:regionArea>Victorian Clinical Genetics Services, Royal Children's Hospital, Victoria</wicri:regionArea>
<wicri:noRegion>Victoria</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><country wicri:rule="url">Australie</country>
</affiliation>
<affiliation></affiliation>
</author>
<author><name sortKey="Cormier Aire, Valerie" sort="Cormier Aire, Valerie" uniqKey="Cormier Aire V" first="Valérie" last="Cormier-Daire">Valérie Cormier-Daire</name>
<affiliation wicri:level="2"><country>États-Unis</country>
<placeName><region type="state">Californie</region>
</placeName>
<wicri:cityArea>Medical Genetics Birth Defects Center, Steven Spielberg Pediatrics Research Center, Cedars‐Sinai Medical Center and UCLA School of Medicine, Los Angeles</wicri:cityArea>
</affiliation>
<affiliation wicri:level="3"><country xml:lang="fr">France</country>
<wicri:regionArea>Department of Genetics, Hopital Necker Enfants Malades, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Curry, Cynthia J" sort="Curry, Cynthia J" uniqKey="Curry C" first="Cynthia J." last="Curry">Cynthia J. Curry</name>
<affiliation wicri:level="2"><country>États-Unis</country>
<placeName><region type="state">Californie</region>
</placeName>
<wicri:cityArea>Genetic Medicine, Valley Children's Hospital/UCSF, Madera</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Nashelsky, Marcus B" sort="Nashelsky, Marcus B" uniqKey="Nashelsky M" first="Marcus B." last="Nashelsky">Marcus B. Nashelsky</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Nouveau-Mexique</region>
</placeName>
<wicri:cityArea>Department of Pathology, University of New Mexico School of Medicine, Albuquerque</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Rappaport, Valerie" sort="Rappaport, Valerie" uniqKey="Rappaport V" first="Valerie" last="Rappaport">Valerie Rappaport</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Nouveau-Mexique</region>
</placeName>
<wicri:cityArea>Department of Obstetrics and Gynecology, University of New Mexico School of Medicine, Albuquerque</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Rimoin, David L" sort="Rimoin, David L" uniqKey="Rimoin D" first="David L." last="Rimoin">David L. Rimoin</name>
<affiliation wicri:level="2"><country>États-Unis</country>
<placeName><region type="state">Californie</region>
</placeName>
<wicri:cityArea>Medical Genetics Birth Defects Center, Steven Spielberg Pediatrics Research Center, Cedars‐Sinai Medical Center and UCLA School of Medicine, Los Angeles</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Lachman, Ralph S" sort="Lachman, Ralph S" uniqKey="Lachman R" first="Ralph S." last="Lachman">Ralph S. Lachman</name>
<affiliation wicri:level="2"><country>États-Unis</country>
<placeName><region type="state">Californie</region>
</placeName>
<wicri:cityArea>Medical Genetics Birth Defects Center, Steven Spielberg Pediatrics Research Center, Cedars‐Sinai Medical Center and UCLA School of Medicine, Los Angeles</wicri:cityArea>
</affiliation>
<affiliation wicri:level="2"><country>États-Unis</country>
<placeName><region type="state">Californie</region>
</placeName>
<wicri:cityArea>Department of Radiology, UCLA School of Medicine, Los Angeles</wicri:cityArea>
</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">94</biblScope>
<biblScope unit="issue">1</biblScope>
<biblScope unit="page" from="59">59</biblScope>
<biblScope unit="page" to="63">63</biblScope>
<biblScope unit="page-count">5</biblScope>
<publisher>John Wiley & Sons, Inc.</publisher>
<pubPlace>New York</pubPlace>
<date type="published" when="2000-09-04">2000-09-04</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>Abnormality</term>
<term>Absent fibulae</term>
<term>Agenesis</term>
<term>Bilateral</term>
<term>Bilateral glenoid hypoplasia</term>
<term>Boomerang bone disease</term>
<term>Case study</term>
<term>Centile</term>
<term>Child</term>
<term>Developmental delay</term>
<term>Dysplasia</term>
<term>Equinovalgus foot deformities</term>
<term>Exploration</term>
<term>Family history</term>
<term>Fibula</term>
<term>Fibular</term>
<term>Fibular aplasia</term>
<term>Genet</term>
<term>Genetics services</term>
<term>Head circumference</term>
<term>Hypoplasia</term>
<term>Langer type</term>
<term>Limb</term>
<term>Lower limbs</term>
<term>Malformation</term>
<term>Mental retardation</term>
<term>Mesomelia</term>
<term>Mesomelic</term>
<term>Mesomelic dwarfism</term>
<term>Mesomelic dysplasia</term>
<term>Mesomelic dysplasias</term>
<term>Mexico school</term>
<term>Nievergelt</term>
<term>Nievergelt dysplasia</term>
<term>Nievergelt syndrome</term>
<term>Nievergelt type</term>
<term>Novelty</term>
<term>Oblique view</term>
<term>Other abnormalities</term>
<term>Phenotype</term>
<term>Radial heads</term>
<term>Radiography</term>
<term>Royal hospital</term>
<term>Shortness</term>
<term>Skeletal dysplasia</term>
<term>Sporadic cases</term>
<term>Syndrome</term>
<term>Tarsal bones</term>
<term>Tibia</term>
<term>Triangular tibiae</term>
<term>Ucla school</term>
<term>Ulna</term>
<term>Upper limbs</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Agénésie</term>
<term>Enfant</term>
<term>Etude cas</term>
<term>Exploration</term>
<term>Hypoplasie</term>
<term>Malformation</term>
<term>Nanisme mésomélique</term>
<term>Nouveauté</term>
<term>Phénotype</term>
<term>Péroné</term>
<term>Radiographie</term>
<term>Tibia</term>
</keywords>
<keywords scheme="Teeft" xml:lang="en"><term>Abnormality</term>
<term>Absent fibulae</term>
<term>Bilateral</term>
<term>Bilateral glenoid hypoplasia</term>
<term>Boomerang bone disease</term>
<term>Centile</term>
<term>Developmental delay</term>
<term>Dysplasia</term>
<term>Equinovalgus foot deformities</term>
<term>Family history</term>
<term>Fibula</term>
<term>Fibular</term>
<term>Fibular aplasia</term>
<term>Genet</term>
<term>Genetics services</term>
<term>Head circumference</term>
<term>Langer type</term>
<term>Limb</term>
<term>Lower limbs</term>
<term>Mental retardation</term>
<term>Mesomelia</term>
<term>Mesomelic</term>
<term>Mesomelic dysplasia</term>
<term>Mesomelic dysplasias</term>
<term>Mexico school</term>
<term>Nievergelt</term>
<term>Nievergelt dysplasia</term>
<term>Nievergelt syndrome</term>
<term>Nievergelt type</term>
<term>Oblique view</term>
<term>Other abnormalities</term>
<term>Radial heads</term>
<term>Royal hospital</term>
<term>Shortness</term>
<term>Skeletal dysplasia</term>
<term>Sporadic cases</term>
<term>Syndrome</term>
<term>Tarsal bones</term>
<term>Tibia</term>
<term>Triangular tibiae</term>
<term>Ucla school</term>
<term>Ulna</term>
<term>Upper limbs</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Enfant</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">We report on two unrelated, sporadic cases of a mesomelic dysplasia characterized by absence of fibulae and severely hypoplastic, triangular‐shaped tibiae. Moderate mesomelic shortness was present in the upper limbs with proximal widening of the ulnae. There was also axial skeletal involvement in both cases, characterized radiographically by an abnormal pelvis and marked bilateral glenoid hypoplasia. These cases appear to represent a new form of mesomelic dysplasia distinct from those previously delineated. Am. J. Med. Genet. 94:59–63, 2000. © 2000 Wiley‐Liss, Inc.</div>
</front>
</TEI>
<affiliations><list><country><li>Australie</li>
<li>France</li>
<li>États-Unis</li>
</country>
<region><li>Californie</li>
<li>Nouveau-Mexique</li>
<li>Île-de-France</li>
</region>
<settlement><li>Paris</li>
</settlement>
</list>
<tree><country name="États-Unis"><region name="Californie"><name sortKey="Savarirayan, Ravi" sort="Savarirayan, Ravi" uniqKey="Savarirayan R" first="Ravi" last="Savarirayan">Ravi Savarirayan</name>
</region>
<name sortKey="Cormier Aire, Valerie" sort="Cormier Aire, Valerie" uniqKey="Cormier Aire V" first="Valérie" last="Cormier-Daire">Valérie Cormier-Daire</name>
<name sortKey="Curry, Cynthia J" sort="Curry, Cynthia J" uniqKey="Curry C" first="Cynthia J." last="Curry">Cynthia J. Curry</name>
<name sortKey="Lachman, Ralph S" sort="Lachman, Ralph S" uniqKey="Lachman R" first="Ralph S." last="Lachman">Ralph S. Lachman</name>
<name sortKey="Lachman, Ralph S" sort="Lachman, Ralph S" uniqKey="Lachman R" first="Ralph S." last="Lachman">Ralph S. Lachman</name>
<name sortKey="Nashelsky, Marcus B" sort="Nashelsky, Marcus B" uniqKey="Nashelsky M" first="Marcus B." last="Nashelsky">Marcus B. Nashelsky</name>
<name sortKey="Rappaport, Valerie" sort="Rappaport, Valerie" uniqKey="Rappaport V" first="Valerie" last="Rappaport">Valerie Rappaport</name>
<name sortKey="Rimoin, David L" sort="Rimoin, David L" uniqKey="Rimoin D" first="David L." last="Rimoin">David L. Rimoin</name>
</country>
<country name="Australie"><noRegion><name sortKey="Savarirayan, Ravi" sort="Savarirayan, Ravi" uniqKey="Savarirayan R" first="Ravi" last="Savarirayan">Ravi Savarirayan</name>
</noRegion>
<name sortKey="Savarirayan, Ravi" sort="Savarirayan, Ravi" uniqKey="Savarirayan R" first="Ravi" last="Savarirayan">Ravi Savarirayan</name>
</country>
<country name="France"><region name="Île-de-France"><name sortKey="Cormier Aire, Valerie" sort="Cormier Aire, Valerie" uniqKey="Cormier Aire V" first="Valérie" last="Cormier-Daire">Valérie Cormier-Daire</name>
</region>
</country>
</tree>
</affiliations>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Asie/explor/AustralieFrV1/Data/Main/Exploration

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 00BF66 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 00BF66 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Asie
   |area=    AustralieFrV1
   |flux=    Main
   |étape=   Exploration
   |type=    RBID
   |clé=     ISTEX:E7BC6497019DEAEF49D4A9DFB4D0FF03AE3B6908
   |texte=   New mesomelic dysplasia with absent fibulae and triangular tibiae
}}

This area was generated with Dilib version V0.6.33.
Data generation: Tue Dec 5 10:43:12 2017. Site generation: Tue Mar 5 14:07:20 2024

Serveur d'exploration sur les relations entre la France et l'Australie

New mesomelic dysplasia with absent fibulae and triangular tibiae

New mesomelic dysplasia with absent fibulae and triangular tibiae

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 les relations entre la France et l'Australie
	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.