Choanal atresia as a feature of ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome.
Identifieur interne : 005738 ( Ncbi/Merge ); précédent : 005737; suivant : 005739Choanal atresia as a feature of ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome.
Auteurs : J. Christodoulou ; P N Mcdougall ; L J SheffieldSource :
- Journal of Medical Genetics [ 0022-2593 ] ; 1989.
Abstract
We report here a father and daughter with digital abnormalities, nasolacrimal duct obstruction, and variable alopecia. The father had a cleft lip and palate and the daughter had choanal atresia. We propose they both have the EEC syndrome and show the variable expressivity of this disorder. Choanal atresia has not been previously reported in this condition.
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PubMed: 2553970
PubMed Central: 1015700
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Choanal atresia as a feature of ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome.</title><author><name sortKey="Christodoulou, J" sort="Christodoulou, J" uniqKey="Christodoulou J" first="J" last="Christodoulou">J. Christodoulou</name></author><author><name sortKey="Mcdougall, P N" sort="Mcdougall, P N" uniqKey="Mcdougall P" first="P N" last="Mcdougall">P N Mcdougall</name></author><author><name sortKey="Sheffield, L J" sort="Sheffield, L J" uniqKey="Sheffield L" first="L J" last="Sheffield">L J Sheffield</name></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">2553970</idno><idno type="pmc">1015700</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1015700</idno><idno type="RBID">PMC:1015700</idno><date when="1989">1989</date><idno type="wicri:Area/Pmc/Corpus">001589</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001589</idno><idno type="wicri:Area/Pmc/Curation">001589</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">001589</idno><idno type="wicri:Area/Pmc/Checkpoint">002912</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">002912</idno><idno type="wicri:Area/Ncbi/Merge">005738</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Choanal atresia as a feature of ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome.</title><author><name sortKey="Christodoulou, J" sort="Christodoulou, J" uniqKey="Christodoulou J" first="J" last="Christodoulou">J. Christodoulou</name></author><author><name sortKey="Mcdougall, P N" sort="Mcdougall, P N" uniqKey="Mcdougall P" first="P N" last="Mcdougall">P N Mcdougall</name></author><author><name sortKey="Sheffield, L J" sort="Sheffield, L J" uniqKey="Sheffield L" first="L J" last="Sheffield">L J Sheffield</name></author></analytic><series><title level="j">Journal of Medical Genetics</title><idno type="ISSN">0022-2593</idno><idno type="eISSN">1468-6244</idno><imprint><date when="1989">1989</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>We report here a father and daughter with digital abnormalities, nasolacrimal duct obstruction, and variable alopecia. The father had a cleft lip and palate and the daughter had choanal atresia. We propose they both have the EEC syndrome and show the variable expressivity of this disorder. Choanal atresia has not been previously reported in this condition.</p><sec sec-type="scanned-figures"><title>Images</title><fig id="F1"><graphic xlink:href="jmedgene00059-0042-a" xlink:role="586"></graphic></fig><fig id="F2"><graphic xlink:href="jmedgene00059-0043-a" xlink:role="587"></graphic></fig><fig id="F3"><graphic xlink:href="jmedgene00059-0043-b" xlink:role="587"></graphic></fig></sec></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">J Med Genet</journal-id><journal-title>Journal of Medical Genetics</journal-title><issn pub-type="ppub">0022-2593</issn><issn pub-type="epub">1468-6244</issn></journal-meta><article-meta><article-id pub-id-type="pmid">2553970</article-id><article-id pub-id-type="pmc">1015700</article-id><article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject></subj-group></article-categories><title-group><article-title>Choanal atresia as a feature of ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome.</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Christodoulou</surname><given-names>J</given-names></name></contrib><contrib contrib-type="author"><name><surname>McDougall</surname><given-names>P N</given-names></name></contrib><contrib contrib-type="author"><name><surname>Sheffield</surname><given-names>L J</given-names></name></contrib></contrib-group><aff>Department of Genetics, Royal Children's Hospital, Parkville, Victoria, Australia.</aff><pub-date pub-type="ppub"><month>9</month><year>1989</year></pub-date><volume>26</volume><issue>9</issue><fpage>586</fpage><lpage>589</lpage><related-article related-article-type="commentary" vol="27" page="213" id="N0x9114c80.0x9199438" xlink:href="2325099" ext-link-type="pubmed"></related-article><abstract><p>We report here a father and daughter with digital abnormalities, nasolacrimal duct obstruction, and variable alopecia. The father had a cleft lip and palate and the daughter had choanal atresia. We propose they both have the EEC syndrome and show the variable expressivity of this disorder. Choanal atresia has not been previously reported in this condition.</p><sec sec-type="scanned-figures"><title>Images</title><fig id="F1"><graphic xlink:href="jmedgene00059-0042-a" xlink:role="586"></graphic></fig><fig id="F2"><graphic xlink:href="jmedgene00059-0043-a" xlink:role="587"></graphic></fig><fig id="F3"><graphic xlink:href="jmedgene00059-0043-b" xlink:role="587"></graphic></fig></sec></abstract></article-meta></front></pmc><affiliations><list></list><tree><noCountry><name sortKey="Christodoulou, J" sort="Christodoulou, J" uniqKey="Christodoulou J" first="J" last="Christodoulou">J. Christodoulou</name><name sortKey="Mcdougall, P N" sort="Mcdougall, P N" uniqKey="Mcdougall P" first="P N" last="Mcdougall">P N Mcdougall</name><name sortKey="Sheffield, L J" sort="Sheffield, L J" uniqKey="Sheffield L" first="L J" last="Sheffield">L J Sheffield</name></noCountry></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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