中华骨质疏松和骨矿盐疾病杂志2023，Vol.16Issue(5)：497-502,6.DOI:10.3969/j.issn.1674-2591.2023.05.011
NOTCH2基因突变导致Hajdu-Cheney综合征一例报告
Hajdu-Cheney syndrome caused by NOTCH2 moutation:A case report
摘要
Abstract
The clinical manifestation,imaging features,genetic diagnosis,and follow-up after bisphosphonate treatment in a patient with Hajdu-Cheney syndrome(HCS)were summarized.The 12 years old boy suffered from 3 times fractures and backache in past 3 years.He had short stature and craniofacial deformity,his femurs were unequal in length,and he also had stubby and clubbed fingers.Vertebral fractures and acro-osteolysis of the distal phalanges were shown on X-ray.The de novo heterozaygous mutation of NOTCH2 gene c.6449_6450delCT(p.P2150RFs∗2)was de-tected,leading to the aminoacid at position 2150 was changed from proline to arginine,and terminates at the downstream codon 2.The boy was diagnosed as HCS and treated with bisphosphonates for 15 months.No new fracture occurred,acro-osteolysis was still progressing.关键词
Hajdu-Cheney综合征/NOTCH2基因/双膦酸盐Key words
Hajdu-Cheney syndrome/NOTCH2 gene/bishosphonates分类
医药卫生引用本文复制引用
焦燕华,郑荣飞,苏喆,李卓光,王立,金柯馨,苏慧萍,齐鸿涛..NOTCH2基因突变导致Hajdu-Cheney综合征一例报告[J].中华骨质疏松和骨矿盐疾病杂志,2023,16(5):497-502,6.基金项目
广东省卫生健康委员会高水平临床重点专科(深圳市配套建设经费)项目(SZGSP012) （深圳市配套建设经费）
深圳市科技计划资助可持续发展专项(KCXFZ20201221173400002) （KCXFZ20201221173400002）
深圳市科技计划资助基础研究课题(JCYJ20210324123610028) （JCYJ20210324123610028）
中华国际医学交流基金会儿科内分泌中青年医师成长科研基金(Z-2019-41-2101-01) （Z-2019-41-2101-01）
