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

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

doi:10.3389/fmed.2021.708717

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

Front Med (Lausanne). 2021 Aug 26:8:708717. doi: 10.3389/fmed.2021.708717. eCollection 2021.

Affiliations

¹ Department of Pediatric Neurology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, Katowice, Poland.
² Students' Scientific Society, Department of Pediatric Neurology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, Katowice, Poland.
³ Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
⁴ Department of Paediatrics, Division of Propaedeutic of Paediatrics and Rare Disorders, Wroclaw Medical University, Wroclaw, Poland.
⁵ Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland.

Abstract

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 TRAF7 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.

Keywords: TRAF7 variants; blepharophimosis; developmental delay; dysmorphic features; facial features; ptosis.

Publication types

Case Reports