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

TITLE=Case Report: Gut and spleen anomalies associated with DYRK1A syndrome

JOURNAL=Frontiers in Pediatrics

VOLUME=10

YEAR=2023

URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2022.936732

DOI=10.3389/fped.2022.936732

ISSN=2296-2360

ABSTRACT=<p>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.</p>