Han Ruizheng, Zhang Chunshuang, Fu Xiling, Zhu Zhengfeng, Wang Xinxia, Li Hezhou
Department of Diagnostic Ultrasound, the Third Affiliated Hospital of Zhengzhou University, Women and Children's Hospital of Henan Province, Health Center for Women and Children of Henan Province, Zhengzhou, Henan Province, China.
Heliyon. 2024 Apr 17;10(9):e29816. doi: 10.1016/j.heliyon.2024.e29816. eCollection 2024 May 15.
Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal dysplasia that presents with abnormalities in the craniofacial region, teeth, and clavicles and is linked to mutation. Prenatal diagnoses of CCD have rarely been reported, and most of these cases have a positive family history. Here we report two prenatally diagnosed CCD cases without a positive family history. We conducted a literature review to summarize the prenatal sonographic findings of CCD.
Case 1 (a 26-year-old woman): ultrasound at 13 weeks showed a thickened nuchal translucency with absent nasal bones and poor ossifications in the cranium and vertebrae. Genetic testing confirmed a frame shift deletion of . Case 2 (a 27-year-old woman): ultrasound at 32 weeks showed potential fetal skeletal dysplasia, with inadequate skull ossification, mild ossified bilateral clavicles, and frameshift deletion mutation. Both cases were diagnosed with CCD and the parents chose pregnancy termination.
These cases underscore the importance of sonographic examination for prenatal CCD diagnosis with a negative family history. By reviewing previous cases, we concluded that combining NB hypoplasia, clavicle and skull hypoplasia, and shortened long bones may be effective for early screening for CCD. Prenatal diagnosis is crucial for guiding medical decisions.
锁骨颅骨发育不全（CCD）是一种罕见的常染色体显性骨骼发育不良疾病，表现为颅面部区域、牙齿和锁骨异常，与基因突变有关。产前诊断CCD的报道很少，且大多数病例有阳性家族史。在此，我们报告两例无阳性家族史的产前诊断CCD病例。我们进行了文献综述以总结CCD的产前超声检查结果。
病例1（一名26岁女性）：孕13周超声检查显示颈部透明带增厚，鼻骨缺如，颅骨和椎骨骨化不良。基因检测证实存在一个移码缺失。病例2（一名27岁女性）：孕32周超声检查显示可能存在胎儿骨骼发育不良，颅骨骨化不足，双侧锁骨轻度骨化，以及一个移码缺失突变。两例均被诊断为CCD，父母选择终止妊娠。
这些病例强调了超声检查对无家族史的产前CCD诊断的重要性。通过回顾既往病例，我们得出结论，联合鼻骨发育不全、锁骨和颅骨发育不全以及长骨缩短可能对早期筛查CCD有效。产前诊断对于指导医疗决策至关重要。
