广西医学2018，Vol.40Issue(5)：534-536,3.DOI:10.11675/j.issn.0253-4304.2018.05.15
颅骨锁骨发育不全的临床特点
Clinical features of cleidocranial dysplasia
伊鹏 1李秀珍 1徐爱晶 1程静 1李翠玲 1牛会林 2周志红 1刘丽1
作者信息
- 1. 广东省广州市妇女儿童医疗中心,遗传与内分泌科,广州市 510623
- 2. 广东省广州市妇女儿童医疗中心,病理科,广州市 510623
- 折叠
摘要
Abstract
Objective To investigate the clinical features and diagnostic methods of cleidocranial dysplasia pedigree.Methods The data of cleidocranial dysplasia pedigree were reported to summarize the clinical features and diagnostic methods.Results Both the children and his father suffered short stature,bregmatic fontanel closure delay/failure and hypoplastic clavicles,and presented a whole exon deletion of Runt-related transcription factor 2 gene,using GenCap targeted gene capture technology combined with next-generation sequencing technology. The case was confirmed as cleidocranial dysplasia and received the symptomatic therapy.Conclusion The case belongs to rare diseases. Pediatricians and dentists should raise the awareness of the clinical features of the disease and carry out the diagnosis and prenatal intervention as soon as possible.关键词
颅骨锁骨发育不全/临床特点/诊断/病例报告Key words
Cleidocranial dysplasia/Clinical feature/Diagnosis/Case report分类
医药卫生引用本文复制引用
伊鹏,李秀珍,徐爱晶,程静,李翠玲,牛会林,周志红,刘丽..颅骨锁骨发育不全的临床特点[J].广西医学,2018,40(5):534-536,3.
