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

Autor:	Paprocka J; Department of Pediatric Neurology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, Katowice, Poland., Nowak M; Students' Scientific Society, Department of Pediatric Neurology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, Katowice, Poland., Nieć M; Students' Scientific Society, Department of Pediatric Neurology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, Katowice, Poland., Janik I; Students' Scientific Society, Department of Pediatric Neurology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, Katowice, Poland., Rydzanicz M; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland., Robert Ś; Department of Paediatrics, Division of Propaedeutic of Paediatrics and Rare Disorders, Wroclaw Medical University, Wroclaw, Poland., Klaniewska M; Department of Paediatrics, Division of Propaedeutic of Paediatrics and Rare Disorders, Wroclaw Medical University, Wroclaw, Poland., Rutkowska K; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland., Płoski R; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland., Jezela-Stanek A; Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland.
Jazyk:	angličtina
Zdroj:	Frontiers in medicine [Front Med (Lausanne)] 2021 Aug 26; Vol. 8, pp. 708717. Date of Electronic Publication: 2021 Aug 26 (Print Publication: 2021).
DOI:	10.3389/fmed.2021.708717
Abstrakt:	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. Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. (Copyright © 2021 Paprocka, Nowak, Nieć, Janik, Rydzanicz, Robert, Klaniewska, Rutkowska, Płoski and Jezela-Stanek.)
Databáze:	MEDLINE
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