Li Shan, Xi Kewang, Liu Ting, Zhang Ying, Li Juan
The First School of Clinical Medicine, Lanzhou University, Lanzhou, Gansu 730000, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Sep 10;38(9):917-920. doi: 10.3760/cma.j.cn511374-20200410-00251.
Phelan-McDermid syndrome (PMS)(OMIM#606232) is a rare genetic disorder caused by a deletion of the distal long arm of chromosome 22q13 involving a variety of clinical features with considerably heterogeneous degrees of severity. This syndrome is characterized by global developmental delay, intellectual disability, hypotonia, absent or severely delayed speech, minor dysmorphic features and autism spectrum disorder. PMS is easy to be misdiagnosed due to the lack of specific clinical manifestations. SHANK3 has been identified as the critical candidate gene for the neurological features of this syndrome. However, some studies have shown that other genes located in the 22q13 region may have a role in the formation of symptoms in individuals with PMS. This article provides a review for recent progress made in research on PMS including etiology, clinical manifestation, diagnosis, and treatment, with a particular emphasis on clinical diagnosis and treatment.
费兰-麦克德米德综合征（PMS）（OMIM#606232）是一种罕见的遗传性疾病，由22q13染色体长臂远端缺失引起，具有多种临床特征，严重程度差异很大。该综合征的特征是全面发育迟缓、智力残疾、肌张力减退、语言缺失或严重延迟、轻微畸形特征和自闭症谱系障碍。由于缺乏特异性临床表现，PMS容易被误诊。SHANK3已被确定为该综合征神经学特征的关键候选基因。然而，一些研究表明，位于22q13区域的其他基因可能在PMS患者症状的形成中起作用。本文综述了PMS在病因、临床表现、诊断和治疗方面的最新研究进展，特别强调了临床诊断和治疗。
