Infantino I, Tocchioni F, Ghionzoli M, Coletta R, Morini F, Morabito A
Department of Neuroscience, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, Florence, Italy.
Meyer's Children Hospital, Department of Pediatric Surgery, University of Florence, Florence, Italy.
Front Pediatr. 2023 Jan 18;10:936732. doi: 10.3389/fped.2022.936732. eCollection 2022.
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.
DYRK1A综合征主要在神经学以及其他表型特征方面，如骨骼和颅面改变等，得到了广泛研究。在本文中，我们旨在强调与DYRK1A突变相关的异常情况：一名17岁女性患者，伴有语言和认知发育迟缓、小头畸形及自闭症谱系障碍，因脾扭转伴肠道异常固定接受了手术。
