Postnatal phenotype according to prenatal ultrasound features of Noonan syndrome: a retrospective study of 28 cases
Identifieur interne : 000185 ( France/Analysis ); précédent : 000184; suivant : 000186Postnatal phenotype according to prenatal ultrasound features of Noonan syndrome: a retrospective study of 28 cases
Auteurs : A. Gaudineau [France] ; B. Doray [France] ; E. Schaefer [France] ; N. Sananès [France] ; G. Fritz [France] ; M. Kohler [France] ; Y. Alembik [France] ; B. Viville [France] ; R. Favre [France] ; B. Langer [France]Source :
- Prenatal Diagnosis [ 0197-3851 ] ; 2013-03.
Abstract
Noonan syndrome is a frequent genetic disorder with autosomal dominant transmission. Classically, it combines postnatal growth restriction with dysmorphic and malformation syndromes that vary widely in expressivity. Lymphatic dysplasia induced during the embryonic stage might interfere with tissue migration. Our hypothesis is that the earlier the edema, the more severe postnatal phenotype.
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DOI: 10.1002/pd.4051
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Classically, it combines postnatal growth restriction with dysmorphic and malformation syndromes that vary widely in expressivity. Lymphatic dysplasia induced during the embryonic stage might interfere with tissue migration. Our hypothesis is that the earlier the edema, the more severe postnatal phenotype.</div></front></TEI><affiliations><list><country><li>France</li></country><region><li>Alsace (région administrative)</li><li>Grand Est</li></region><settlement><li>Strasbourg</li></settlement></list><tree><country name="France"><region name="Grand Est"><name sortKey="Gaudineau, A" sort="Gaudineau, A" uniqKey="Gaudineau A" first="A." last="Gaudineau">A. Gaudineau</name></region><name sortKey="Alembik, Y" sort="Alembik, Y" uniqKey="Alembik Y" first="Y." last="Alembik">Y. Alembik</name><name sortKey="Doray, B" sort="Doray, B" uniqKey="Doray B" first="B." last="Doray">B. Doray</name><name sortKey="Favre, R" sort="Favre, R" uniqKey="Favre R" first="R." last="Favre">R. Favre</name><name sortKey="Fritz, G" sort="Fritz, G" uniqKey="Fritz G" first="G." last="Fritz">G. Fritz</name><name sortKey="Gaudineau, A" sort="Gaudineau, A" uniqKey="Gaudineau A" first="A." last="Gaudineau">A. Gaudineau</name><name sortKey="Kohler, M" sort="Kohler, M" uniqKey="Kohler M" first="M." last="Kohler">M. Kohler</name><name sortKey="Langer, B" sort="Langer, B" uniqKey="Langer B" first="B." last="Langer">B. Langer</name><name sortKey="Sananes, N" sort="Sananes, N" uniqKey="Sananes N" first="N." last="Sananès">N. Sananès</name><name sortKey="Schaefer, E" sort="Schaefer, E" uniqKey="Schaefer E" first="E." last="Schaefer">E. Schaefer</name><name sortKey="Viville, B" sort="Viville, B" uniqKey="Viville B" first="B." last="Viville">B. Viville</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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