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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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Autores principales: Paprocka, Justyna, Nowak, Magdalena, Nieć, Maria, Janik, Izabela, Rydzanicz, Małgorzata, Robert, Śmigiel, Klaniewska, Magdalena, Rutkowska, Karolina, Płoski, Rafał, Jezela-Stanek, Aleksandra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8428514/
https://www.ncbi.nlm.nih.gov/pubmed/34513876
http://dx.doi.org/10.3389/fmed.2021.708717
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author Paprocka, Justyna
Nowak, Magdalena
Nieć, Maria
Janik, Izabela
Rydzanicz, Małgorzata
Robert, Śmigiel
Klaniewska, Magdalena
Rutkowska, Karolina
Płoski, Rafał
Jezela-Stanek, Aleksandra
author_facet Paprocka, Justyna
Nowak, Magdalena
Nieć, Maria
Janik, Izabela
Rydzanicz, Małgorzata
Robert, Śmigiel
Klaniewska, Magdalena
Rutkowska, Karolina
Płoski, Rafał
Jezela-Stanek, Aleksandra
author_sort Paprocka, Justyna
collection PubMed
description 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.
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spelling pubmed-84285142021-09-10 Case Report: Blepharophimosis and Ptosis as Leading Dysmorphic Features of Rare Congenital Malformation Syndrome With Developmental Delay – New Cases With TRAF7 Variants Paprocka, Justyna Nowak, Magdalena Nieć, Maria Janik, Izabela Rydzanicz, Małgorzata Robert, Śmigiel Klaniewska, Magdalena Rutkowska, Karolina Płoski, Rafał Jezela-Stanek, Aleksandra Front Med (Lausanne) Medicine 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. Frontiers Media S.A. 2021-08-26 /pmc/articles/PMC8428514/ /pubmed/34513876 http://dx.doi.org/10.3389/fmed.2021.708717 Text en Copyright © 2021 Paprocka, Nowak, Nieć, Janik, Rydzanicz, Robert, Klaniewska, Rutkowska, Płoski and Jezela-Stanek. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Medicine
Paprocka, Justyna
Nowak, Magdalena
Nieć, Maria
Janik, Izabela
Rydzanicz, Małgorzata
Robert, Śmigiel
Klaniewska, Magdalena
Rutkowska, Karolina
Płoski, Rafał
Jezela-Stanek, Aleksandra
Case Report: Blepharophimosis and Ptosis as Leading Dysmorphic Features of Rare Congenital Malformation Syndrome With Developmental Delay – New Cases With TRAF7 Variants
title Case Report: Blepharophimosis and Ptosis as Leading Dysmorphic Features of Rare Congenital Malformation Syndrome With Developmental Delay – New Cases With TRAF7 Variants
title_full Case Report: Blepharophimosis and Ptosis as Leading Dysmorphic Features of Rare Congenital Malformation Syndrome With Developmental Delay – New Cases With TRAF7 Variants
title_fullStr Case Report: Blepharophimosis and Ptosis as Leading Dysmorphic Features of Rare Congenital Malformation Syndrome With Developmental Delay – New Cases With TRAF7 Variants
title_full_unstemmed Case Report: Blepharophimosis and Ptosis as Leading Dysmorphic Features of Rare Congenital Malformation Syndrome With Developmental Delay – New Cases With TRAF7 Variants
title_short Case Report: Blepharophimosis and Ptosis as Leading Dysmorphic Features of Rare Congenital Malformation Syndrome With Developmental Delay – New Cases With TRAF7 Variants
title_sort case report: blepharophimosis and ptosis as leading dysmorphic features of rare congenital malformation syndrome with developmental delay – new cases with traf7 variants
topic Medicine
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8428514/
https://www.ncbi.nlm.nih.gov/pubmed/34513876
http://dx.doi.org/10.3389/fmed.2021.708717
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