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Case Report: Gut and spleen anomalies associated with DYRK1A syndrome

Infantino, I.; Tocchioni, F.; Ghionzoli, M.; Coletta, R.; Morini, F.; Morabito, A.

Case Report: Gut and spleen anomalies associated with DYRK1A syndrome Thumbnail


Authors

I. Infantino

F. Tocchioni

M. Ghionzoli

R. Coletta

F. Morini

A. Morabito



Abstract

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.

Citation

Infantino, I., Tocchioni, F., Ghionzoli, M., Coletta, R., Morini, F., & Morabito, A. (in press). Case Report: Gut and spleen anomalies associated with DYRK1A syndrome. Frontiers in Pediatrics, 10, 936732. https://doi.org/10.3389/fped.2022.936732

Journal Article Type Article
Acceptance Date Dec 19, 2022
Online Publication Date Jan 18, 2023
Deposit Date Mar 4, 2024
Publicly Available Date Mar 4, 2024
Journal Frontiers in Pediatrics
Publisher Frontiers Media
Peer Reviewed Peer Reviewed
Volume 10
Pages 936732
DOI https://doi.org/10.3389/fped.2022.936732
Keywords splenectomy, spleen abnormalities, DYRK1A, gut abnormalities, intestinal obstruction

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