考芬-洛里综合征的生长问题：一例报告及文献综述

Lv Ying, Zhu Liuyan, Zheng Jing, Wu Dingwen, Shao Jie

Department of Pediatric Health Care, The Children's Hospital, Zhejiang University School of Medicine, Hangzhou, China.

Department of Gene Screening Laboratory, The Children's Hospital, Zhejiang University School of Medicine, Hangzhou, China.

Front Pediatr. 2019 Jan 25;6:430. doi: 10.3389/fped.2018.00430. eCollection 2018.

Mutation of RPS6KA3 can induce Coffin-Lowry syndrome, an X-linked syndrome. The case here reported manifests its signature characteristic of short stature, facial dysmorphism, development retardation, hearing defect. The mutation of RPS6KA3 we detected by NGS analysis is c.2185 C > T. The short stature is a noteworthy problem we discuss here to improve the patient's growth and development. The efficacy and safety of application of growth hormone analogs on patients with CLS are not confirmed and need to be carefully considered.

RPS6KA3基因突变可诱发科芬-洛里综合征，这是一种X连锁综合征。本文报道的病例表现出身材矮小、面部畸形、发育迟缓、听力缺陷等典型特征。我们通过二代测序（NGS）分析检测到的RPS6KA3基因突变是c.2185 C>T。身材矮小是我们在此讨论的一个值得关注的问题，以促进患者的生长发育。生长激素类似物应用于科芬-洛里综合征患者的疗效和安全性尚未得到证实，需要谨慎考虑。