颅骨锁骨发育不全的临床特点

Clinical features of cleidocranial dysplasia

目的探讨颅骨锁骨发育不全家系的临床特点及诊断方法。方法报告1家系颅骨锁骨发育不全病例,总结其临床特点及诊断方法。结果患儿及其父亲均存在矮小、前囟门闭合延迟或不闭合、锁骨发育不全等表现,应用Gen Cap液相捕获目标基因技术结合第二代测序,发现两者存在Runt相关转录因子2基因的全外显子缺失。确诊为颅骨锁骨发育不全,给予对症治疗。结论该病比较罕见,临床儿科及口腔医师等应增加对该罕见病临床特点的认识,及早进行诊断及产前干预。

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.