Neonatal cleidocranial dysplasia syndrome:A case report
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 RUNX2 gene;chr6:45399745;c.569G＞A(p.Argl90Gln)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.
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万方数据
