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

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 ger...

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Bibliographic Details
Published in:	Frontiers in medicine Vol. 8
Main Authors:	Paprocka, Justyna, Nowak, Magdalena, Nieć, Maria, Janik, Izabela, Rydzanicz, Małgorzata, Robert, Śmigiel, Klaniewska, Magdalena, Rutkowska, Karolina, Płoski, Rafał, Jezela-Stanek, Aleksandra
Format:	Journal Article
Language:	English
Published:	Frontiers Media S.A 26-08-2021
Subjects:	blepharophimosis developmental delay dysmorphic features facial features Medicine ptosis TRAF7 variants
Online Access:	Get full text
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Summary:	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.
Bibliography:	Reviewed by: Diego Lopergolo, University of Siena, Italy; Arzu Taskiran Comez, Çanakkale Onsekiz Mart University, Turkey This article was submitted to Ophthalmology, a section of the journal Frontiers in Medicine Edited by: Filippo M. Santorelli, Fondazione Stella Maris (IRCCS), Italy
ISSN:	2296-858X 2296-858X
DOI:	10.3389/fmed.2021.708717