产前超声诊断胎儿锁骨颅骨发育不良1例并文献复习  

Prenatal ultrasound diagnosis of fetal cleidocranial dysplasia:a case report and literature review

作　　者：孙永杰 杜琳瑶 谢彩丽 吉晓丽 孙玲玉 孙慧 Sun Yongjie;Du Linyao;Xie Caili;Ji Xiaoli;Sun Lingyu;Sun Hui(Department of Gynecologic and Obstetric Ultrasonography,Qingdao Women and Children's Hospital,Qingdao266034,China;Department of Ultrasonography,the First Affiliated Hospital of Dalian Medical University,Dalian116001,China)

机构地区：[1]青岛市妇女儿童医院妇产超声科,青岛266034 [2]大连医科大学附属第一医院超声科,大连116001

出　　处：《中华围产医学杂志》2024年第11期943-948,共6页Chinese Journal of Perinatal Medicine

摘　　要：目的总结胎儿锁骨颅骨发育不良(cleidocranial dysplasia,CCD)的产前超声特征,为临床咨询提供借鉴。方法回顾性分析2023年6月青岛市妇女儿童医院产前诊断的1例CCD胎儿的产前超声特征、遗传学检测结果及预后。同时检索中国知网、中华医学期刊全文数据库、万方数据库及PubMed数据库CCD相关文献,纳入经遗传学检测或生后临床特征和影像学证实且具有相对完整产前超声信息的CCD病例。总结CCD胎儿宫内超声特征。采用描述性统计分析。结果(1)本例孕25周产前超声提示胎儿颅缝增宽,近场颅内结构清晰显示;鼻骨缺失;双侧锁骨缩短且形态僵直;双侧股骨及肱骨轻度缩短。胎儿染色体核型及染色体微阵列分析未见异常,全外显子组测序检出RUNX2基因变异,结合超声表型诊断CCD。孕36周胎膜早破经阴道分娩1男婴,床旁X射线片提示新生儿双侧湿肺及双侧锁骨发育不良。电话随访至9月龄,生长发育未见异常。(2)文献复习:纳入13篇文献的13例胎儿,加之本例共14例CCD胎儿。CCD胎儿主要超声表型为锁骨发育不良(12/14)、颅骨骨化不全(10/14)、鼻骨缺失(8/14)、股骨缩短(12/14),其他超声表型包括肩胛骨发育不良、肋骨短和眼距过宽等。结论锁骨发育不良和颅骨骨化不全是胎儿CCD最特异性征象,鼻骨缺失及股骨轻度缩短是CCD的次要征像。ObjectiveTo summarize the prenatal ultrasound features of fetal cleidocranial dysplasia(CCD)and provide references for clinical consultation.MethodsA retrospective analysis was conducted on the prenatal ultrasound features,genetic testing results,and prognosis of a CCD fetus diagnosed at Qingdao Women and Children's Hospital in June 2023.Relevant literature on CCD was retrieved from the CNKI,Yiigle,Wanfang,and PubMed databases including cases confirmed by genetic testing or postnatal clinical phenotype and imaging with relatively complete prenatal ultrasound information.The prenatal ultrasound features of CCD fetuses were summarized using descriptive statistical analysis.Results(1)In this case,prenatal ultrasound at 25 weeks of gestation indicated widened cranial sutures with clear near-field intracranial structures,absence of the nasal bone,shortened and rigid bilateral clavicles,and mildly shortened bilateral femurs and humeri.Chromosomal karyotyping and chromosomal microarray analysis showed no abnormalities,but whole exome sequencing detected a RUNX2 gene mutation,leading to a diagnosis of CCD combined with the ultrasound phenotype.At 36 weeks of gestation,the mother experienced premature rupture of membranes and delivered a male infant vaginally.Bedside X-rays indicated bilateral wet lungs and bilateral clavicular dysplasia in the newborn.Telephone follow-up at 9 months showed no abnormalities in growth and development.(2)Literature review:Thirteen cases from 13 articles were included,along with this case,totaling 14 CCD fetuses.The main ultrasound phenotypes of CCD fetuses were clavicular dysplasia(12/14),incomplete cranial ossification(10/14),absence of the nasal bone(8/14),and shortening of the femur(12/14).Other ultrasound phenotypes included scapular dysplasia,short ribs,and increased interocular distance.ConclusionClavicular dysplasia and incomplete cranial ossification are the most specific signs of fetal CCD,while absence of the nasal bone and mild femoral shortening are secondary features of CCD.

关 键 词：锁骨颅骨发育不良 超声 产前诊断 胎儿 锁骨 骨化不全 颅缝 RUNX2基因 

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]