Choanal atresia as a feature of ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome.
Identifieur interne : 002912 ( Pmc/Checkpoint ); précédent : 002911; suivant : 002913Choanal 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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<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>
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<title-group><article-title>Choanal atresia as a feature of ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome.</article-title>
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<contrib-group><contrib contrib-type="author"><name><surname>Christodoulou</surname>
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<contrib contrib-type="author"><name><surname>McDougall</surname>
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<contrib contrib-type="author"><name><surname>Sheffield</surname>
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<aff>Department of Genetics, Royal Children's Hospital, Parkville, Victoria, Australia.</aff>
<pub-date pub-type="ppub"><month>9</month>
<year>1989</year>
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<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>
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