AUTHOR=Paprocka Justyna , Nowak Magdalena , Nieć Maria , Janik Izabela , Rydzanicz Małgorzata , Robert Śmigiel , Klaniewska Magdalena , Rutkowska Karolina , Płoski Rafał , Jezela-Stanek Aleksandra 

TITLE=Case Report: Blepharophimosis and Ptosis as Leading Dysmorphic Features of Rare Congenital Malformation Syndrome With Developmental Delay – New Cases With TRAF7 Variants

JOURNAL=Frontiers in Medicine

VOLUME=8

YEAR=2021

URL=https://www.frontiersin.org/journals/medicine/articles/10.3389/fmed.2021.708717

DOI=10.3389/fmed.2021.708717

ISSN=2296-858X

ABSTRACT=<p>Germline variants in tumor necrosis factor receptor-associated factor 7 (TRAF7) gene have recently been described in about 50 patients with developmental delay and cardiac, facial, and digital anomalies (CAFDADD). We aimed to depict further the clinical and genetic spectrum associated with <italic>TRAF7</italic> germline variants in two additional patients, broaden the mutational spectrum, and support the characteristic clinical variety to facilitate the diagnostics of the syndrome among physician involved in the evaluation of patients with developmental delay/congenital malformations.</p>