Prenatal ultrasonography and genetic analysis of fetal cleidocranial dysplasia:A case report  

作　　者：Feng Wang Pei-Feng Dai Wen-Juan Gao 

机构地区：[1]Department of Ultrasonography,Weifang People’s Hospital,Weifang 261000,Shandong Province,China

出　　处：《World Journal of Clinical Cases》2025年第10期28-34,共7页世界临床病例杂志（英文）

基　　金：Supported by Science and Technology Development Plan Project of Weifang,No.2023YX005。

摘　　要：BACKGROUND Cleidocranial dysplasia(CCD)is an infrequent clinical condition with an autosomal dominant inheritance pattern.It is characterized by abnormal clavicles,patent sutures and fontanelles,supernumerary teeth,and short stature.Approximately 60%-70%of patients with CCD have mutations in the RUNX family transcription factor 2 gene.However,prenatal diagnosis of CCD is difficult when the family history is unknown.CASE SUMMARY We report a rare case of fetal CCD with an unknown family history,confirmed by prenatal ultrasonography and genetic testing at a gestational age of 16 weeks.The genetic reports indicated that the fetus carried pathogenic mutations in the RUNX family transcription factor 2 gene(c.674G>A).After careful consideration,the pregnant woman and her family decided to continue the pregnancy.CONCLUSION Definitive prenatal diagnosis of CCD should include family history,ultrasound diagnosis,and genetic analysis,especially if family history is unknown.

关 键 词：Cleidocranial dysplasia Genetic analysis Ultrasonic diagnosis PRENATAL Case report 

分 类 号：R445.1[医药卫生—影像医学与核医学] R714.5[医药卫生—诊断学]