Article
Clinical delineation of a subtype of frontonasal dysplasia with creased nasal ridge and upper limb anomalies: Report of six unrelated patients.
American journal of medical genetics. Part A - 1 Dec 2017
Lehalle Daphné, Altunoglu Umut, Bruel Ange-Line, Arnaud Eric, Blanchet Patricia, Choi Jong-Woo, Désir Julie, Kiliç Esra, Lederer Damien, Pinson Lucile, Thauvin-Robinet Christel, Singer Amihood, Thevenon Julien, Callier Patrick, Kayserili Hulya, Faivre Laurence
Abstract excerpt
Frontonasal dysplasias are rare congenital malformations of frontonasal process-derived structures, characterized by median cleft, nasal anomalies, widely spaced eyes, and cranium bifidum occultum. Several entities of syndromic frontonasal dysplasia have been described, among which, to date, only a few have identified molecular bases. We clinically ascertained a cohort of 124 individuals referred for frontonasal...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.