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

Affiliations

Justyna Paprocka

Department of Pediatric Neurology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, Katowice, Poland

Magdalena Nowak

Students' Scientific Society, Department of Pediatric Neurology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, Katowice, Poland

Maria Nieć

Students' Scientific Society, Department of Pediatric Neurology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, Katowice, Poland

Izabela Janik

Students' Scientific Society, Department of Pediatric Neurology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, Katowice, Poland

Małgorzata Rydzanicz

Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland

Śmigiel Robert

Department of Paediatrics, Division of Propaedeutic of Paediatrics and Rare Disorders, Wroclaw Medical University, Wroclaw, Poland

Magdalena Klaniewska

Department of Paediatrics, Division of Propaedeutic of Paediatrics and Rare Disorders, Wroclaw Medical University, Wroclaw, Poland

Karolina Rutkowska

Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland

Rafał Płoski

Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland

Aleksandra Jezela-Stanek

Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland