Article
Postnatal phenotype according to prenatal ultrasound features of Noonan syndrome: a retrospective study of 28 cases.
Prenatal diagnosis - 1 Mar 2013
Gaudineau A, Doray B, Schaefer E, Sananès N, Fritz G, Kohler M, Alembik Y, Viville B, Favre R, Langer B
Abstract excerpt
OBJECTIVE: 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. METHOD: This...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.