Blepharo‐cheilo‐dontic (BCD) syndrome
Identifieur interne : 00C132 ( Main/Exploration ); précédent : 00C131; suivant : 00C133Blepharo‐cheilo‐dontic (BCD) syndrome
Auteurs : Robert J. Gorlin [États-Unis] ; Hans Zellweger [États-Unis] ; M. Waziri Curtis [États-Unis] ; Hans-Rudolf Wiedemann ; Mette Warburg [Danemark] ; Franz Majewski ; Gabriele Gillessen-Kaesbach [Allemagne] ; Birte Pranl-Anderson [Pays-Bas] ; Elaine Zackai [États-Unis]Source :
- American Journal of Medical Genetics [ 0148-7299 ] ; 1996-10-16.
Abstract
Patients with the autosomal dominant blepharo‐cheilo‐dentin (BCD) syndrome have ectropion of lower eyelids, distichiasis of upper eyelids, euryblepharon, bilaterally cleft lip/palate, oligodontia, and conical crown form. Initially known under the eponym “Elschnig syndrome” (1912), BCD syndrome has been described in binary, ternary, and quaternary combination. There is overlap with the syndrome reported by Martínez et al. [1887], postaxial acrofacial dysostosis (Miller syndrome, Genée‐Wiedemann syndrome), and a syndrome reported briefly by Warburg. © 1996 Wiley‐Liss, Inc.
Url:
DOI: 10.1002/(SICI)1096-8628(19961016)65:2<109::AID-AJMG5>3.0.CO;2-N
Affiliations:
- Allemagne, Danemark, Pays-Bas, États-Unis
- Arkansas, Hollande-Septentrionale, Hovedstaden, Iowa, Minnesota, Pennsylvanie
- Amsterdam, Copenhague
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: 001540
- to stream Istex, to step Curation: 001540
- to stream Istex, to step Checkpoint: 004540
- to stream Main, to step Merge: 00C986
- to stream Main, to step Curation: 00C132
Le document en format XML
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Waziri Curtis</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Arkansas</region></placeName><wicri:cityArea>Department of Clinical Services, Arkansas Children's Hospital, Little Rock</wicri:cityArea></affiliation></author><author><name sortKey="Wiedemann, Hans Udolf" sort="Wiedemann, Hans Udolf" uniqKey="Wiedemann H" first="Hans-Rudolf" last="Wiedemann">Hans-Rudolf Wiedemann</name><affiliation><wicri:noCountry code="subField">Kiel</wicri:noCountry></affiliation></author><author><name sortKey="Warburg, Mette" sort="Warburg, Mette" uniqKey="Warburg M" first="Mette" last="Warburg">Mette Warburg</name><affiliation wicri:level="3"><country xml:lang="fr">Danemark</country><wicri:regionArea>Department of Ophthalmology, University of Copenhagen, Copenhagen</wicri:regionArea><placeName><settlement type="city">Copenhague</settlement><region type="région" nuts="2">Hovedstaden</region></placeName></affiliation></author><author><name sortKey="Majewski, Franz" sort="Majewski, Franz" uniqKey="Majewski F" first="Franz" last="Majewski">Franz Majewski</name><affiliation><wicri:noCountry code="subField">Düsseldorf</wicri:noCountry></affiliation></author><author><name sortKey="Gillessen Aesbach, Gabriele" sort="Gillessen Aesbach, Gabriele" uniqKey="Gillessen Aesbach G" first="Gabriele" last="Gillessen-Kaesbach">Gabriele Gillessen-Kaesbach</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, University of Essen, Essen</wicri:regionArea><wicri:noRegion>Essen</wicri:noRegion><wicri:noRegion>Essen</wicri:noRegion></affiliation></author><author><name sortKey="Pranl Nderson, Birte" sort="Pranl Nderson, Birte" uniqKey="Pranl Nderson B" first="Birte" last="Pranl-Anderson">Birte Pranl-Anderson</name><affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Orthodontics, Vrije Universiteit, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="Zackai, Elaine" sort="Zackai, Elaine" uniqKey="Zackai E" first="Elaine" last="Zackai">Elaine Zackai</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Pennsylvanie</region></placeName><wicri:cityArea>Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia</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">65</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="109">109</biblScope><biblScope unit="page" to="112">112</biblScope><biblScope unit="page-count">4</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>New York</pubPlace><date type="published" when="1996-10-16">1996-10-16</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="fr">Patients with the autosomal dominant blepharo‐cheilo‐dentin (BCD) syndrome have ectropion of lower eyelids, distichiasis of upper eyelids, euryblepharon, bilaterally cleft lip/palate, oligodontia, and conical crown form. Initially known under the eponym “Elschnig syndrome” (1912), BCD syndrome has been described in binary, ternary, and quaternary combination. There is overlap with the syndrome reported by Martínez et al. [1887], postaxial acrofacial dysostosis (Miller syndrome, Genée‐Wiedemann syndrome), and a syndrome reported briefly by Warburg. © 1996 Wiley‐Liss, Inc.</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Danemark</li><li>Pays-Bas</li><li>États-Unis</li></country><region><li>Arkansas</li><li>Hollande-Septentrionale</li><li>Hovedstaden</li><li>Iowa</li><li>Minnesota</li><li>Pennsylvanie</li></region><settlement><li>Amsterdam</li><li>Copenhague</li></settlement></list><tree><noCountry><name sortKey="Majewski, Franz" sort="Majewski, Franz" uniqKey="Majewski F" first="Franz" last="Majewski">Franz Majewski</name><name sortKey="Wiedemann, Hans Udolf" sort="Wiedemann, Hans Udolf" uniqKey="Wiedemann H" first="Hans-Rudolf" last="Wiedemann">Hans-Rudolf Wiedemann</name></noCountry><country name="États-Unis"><region name="Minnesota"><name sortKey="Gorlin, Robert J" sort="Gorlin, Robert J" uniqKey="Gorlin R" first="Robert J." last="Gorlin">Robert J. Gorlin</name></region><name sortKey="Curtis, M Waziri" sort="Curtis, M Waziri" uniqKey="Curtis M" first="M. Waziri" last="Curtis">M. Waziri Curtis</name><name sortKey="Zackai, Elaine" sort="Zackai, Elaine" uniqKey="Zackai E" first="Elaine" last="Zackai">Elaine Zackai</name><name sortKey="Zellweger, Hans" sort="Zellweger, Hans" uniqKey="Zellweger H" first="Hans" last="Zellweger">Hans Zellweger</name></country><country name="Danemark"><region name="Hovedstaden"><name sortKey="Warburg, Mette" sort="Warburg, Mette" uniqKey="Warburg M" first="Mette" last="Warburg">Mette Warburg</name></region></country><country name="Allemagne"><noRegion><name sortKey="Gillessen Aesbach, Gabriele" sort="Gillessen Aesbach, Gabriele" uniqKey="Gillessen Aesbach G" first="Gabriele" last="Gillessen-Kaesbach">Gabriele Gillessen-Kaesbach</name></noRegion></country><country name="Pays-Bas"><region name="Hollande-Septentrionale"><name sortKey="Pranl Nderson, Birte" sort="Pranl Nderson, Birte" uniqKey="Pranl Nderson B" first="Birte" last="Pranl-Anderson">Birte Pranl-Anderson</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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