新生儿颅骨锁骨发育不全综合征1例报道

Neonatal cleidocranial dysplasia syndrome:A case report

目的分析RUNX2基因变异引起颅骨锁骨发育不全综合征(CCD)的临床表型及遗传学特点,以提高在临床中对该病的认识,早期诊断。方法回顾性分析1例RUNX2基因突变所致新生儿期确诊CCD患儿的临床资料。结果男婴,生后常规体格检查提示“未触及颅顶骨,右锁骨连续性中断”;头颅CT提示颅骨部分缺损,胸部X线提示右锁骨连续性中断。基因检测结果示患儿RUNX2基因;chr6:45399745,c.569G>A(p.Arg190Gln)致病变异。结合患儿的临床表现和遗传分析结果,诊断为CCD。结论新生儿期发现同时具有颅骨、锁骨发育异常患儿,应高度警惕CCD,完善基因检测,指导优生优育。

Objective To analyze the clinical phenotype and genetic characteristics of cleidocranial dysplasia(CCD)caused by RUNX2 gene mutation,in order to improve the clinical understanding and early diagnosis of the disease.Methods The clinical data of 1 case of neonatal CCD caused by RUNX2 gene mutation were analyzed retrospectively.Results At a male baby,due to the parietal bone was not be touched and palpable right clavicular discontinuity on physical examination,cranial CT showed partial skull defect and chest X-ray showed right clavicle was broken.Genetic analysis showed that the RUNX2gene;chr6:45399745;c.569G>A(p.Arg190Gln)was a pathogenic variant.According to the clinical manifestation and genetic analysis,the baby was diagnosed as CCD.Conclusion Baby with cranial and clavicular dysplasia found in the neonatal period should be highly vigilant to CCD,and genetic detection should be perfected to guide eugenics.