Case Report: Gut and spleen anomalies associated with DYRK1A syndrome

DYRK1A syndrome has been extensively studied primarily with regard to neurologic and other phenotypic features such as skeleton and craniofacial alterations. In the present paper, we aim to highlight unusual anomalies associated with a DYRK1A mutation: a 17-year-old female patient with language and...

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Autores principales: Infantino, I., Tocchioni, F., Ghionzoli, M., Coletta, R., Morini, F., Morabito, A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9890171/
https://www.ncbi.nlm.nih.gov/pubmed/36741085
http://dx.doi.org/10.3389/fped.2022.936732
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author Infantino, I.
Tocchioni, F.
Ghionzoli, M.
Coletta, R.
Morini, F.
Morabito, A.
author_facet Infantino, I.
Tocchioni, F.
Ghionzoli, M.
Coletta, R.
Morini, F.
Morabito, A.
author_sort Infantino, I.
collection PubMed
description DYRK1A syndrome has been extensively studied primarily with regard to neurologic and other phenotypic features such as skeleton and craniofacial alterations. In the present paper, we aim to highlight unusual anomalies associated with a DYRK1A mutation: a 17-year-old female patient with language and cognitive delay, microcephaly, and an autistic disorder, who was operated upon for spleen torsion with anomalous gut fixation.
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spelling pubmed-98901712023-02-02 Case Report: Gut and spleen anomalies associated with DYRK1A syndrome Infantino, I. Tocchioni, F. Ghionzoli, M. Coletta, R. Morini, F. Morabito, A. Front Pediatr Pediatrics DYRK1A syndrome has been extensively studied primarily with regard to neurologic and other phenotypic features such as skeleton and craniofacial alterations. In the present paper, we aim to highlight unusual anomalies associated with a DYRK1A mutation: a 17-year-old female patient with language and cognitive delay, microcephaly, and an autistic disorder, who was operated upon for spleen torsion with anomalous gut fixation. Frontiers Media S.A. 2023-01-18 /pmc/articles/PMC9890171/ /pubmed/36741085 http://dx.doi.org/10.3389/fped.2022.936732 Text en © 2023 Infantino, Tocchioni, Ghionzoli, Coletta, Morini and Morabito. 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) (https://creativecommons.org/licenses/by/4.0/) . 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 Pediatrics
Infantino, I.
Tocchioni, F.
Ghionzoli, M.
Coletta, R.
Morini, F.
Morabito, A.
Case Report: Gut and spleen anomalies associated with DYRK1A syndrome
title Case Report: Gut and spleen anomalies associated with DYRK1A syndrome
title_full Case Report: Gut and spleen anomalies associated with DYRK1A syndrome
title_fullStr Case Report: Gut and spleen anomalies associated with DYRK1A syndrome
title_full_unstemmed Case Report: Gut and spleen anomalies associated with DYRK1A syndrome
title_short Case Report: Gut and spleen anomalies associated with DYRK1A syndrome
title_sort case report: gut and spleen anomalies associated with dyrk1a syndrome
topic Pediatrics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9890171/
https://www.ncbi.nlm.nih.gov/pubmed/36741085
http://dx.doi.org/10.3389/fped.2022.936732
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