Clinical delineation of a subtype of frontonasal dysplasia with creased nasal ridge and upper limb anomalies: Report of six unrelated patients

In conclusion, we report six novel simplex individuals presenting with a specific frontonasal dysplasia entity associating recognizable facial features, limb and visceral malformations, and apparently normal development. The identification of discordant monozygotic twins supports the hypothesis of a mosaic disorder. Although previous patients have been reported, this is the first series, allowing delineation of a clinical subtype of frontonasal dysplasia, paving the way toward the identification of its molecular etiology.

http://onlinelibrary.wiley.com/resolve/doi?DOI=10.1002%2Fajmg.a.38490

Source: American Journal of Medical Genetics Part A - November 14, 2017 Category: Genetics & Stem Cells Authors: Daphn é Lehalle, Umut Altunoglu, Ange‐Line Bruel, Eric Arnaud, Patricia Blanchet, Jong‐Woo Choi, Julie Désir, Esra Kiliç, Damien Lederer, Lucile Pinson, Christel Thauvin‐Robinet, Amihood Singer, Julien Thevenon, Patrick Callier, Hulya Kayserili, Tags: NEW SYNDROME Source Type: research