| 马澜,栗河舟,吴娟,冯芳芳,赵鑫,刘灵.朱伯特(Joubert)综合征产前影像学表现与基因异常[J].中国医学影像技术,2021,37(3):333~337 |
| 朱伯特(Joubert)综合征产前影像学表现与基因异常 |
| Prenatal imaging findings and genetic abnormalities of Joubert syndrome |
| 投稿时间：2020-12-15 修订日期：2021-02-15 |
| DOI：10.13929/j.issn.1003-3289.2021.03.004 |
| 中文关键词: 先天性小脑蚓部发育不全 超声检查,产前 磁共振成像 |
| 英文关键词:congenital cerebellar vermis agenesis ultrasonography, prenatal magnetic resonance imaging |
| 基金项目:河南省医学适宜技术推广项目（SYJS2020080）。 |
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| 中文摘要: |
| 目的 分析朱伯特综合征（JS）产前影像学表现和基因异常。方法 回顾性分析11胎经产前超声及MRI诊断为JS胎儿的影像学表现以及遗传学检测结果。结果 超声及MRI均显示10胎小脑蚓部完全缺失、1胎部分缺失。超声及MRI均示11胎第四脑室形态改变，与颅后窝相通，上部前后径大于左右径；超声显示2胎、MRI显示11胎第四脑室顶点均变圆、上凸。11胎均见"磨牙征（MTS）"，超声均明确显示"牙根"，10胎"牙冠"明确显示、1胎不明显；MRI均明确显示"牙根""牙冠"。5胎接受遗传学检查，其中2胎C5orf42基因变异、1胎TMEM216基因变异、1胎ARMC9基因变异。结论 MTS为JS影像学特征，小脑蚓部完全或部分缺失、第四脑室形态改变为JS重要影像学表现；超声联合MRI有助于产前诊断JS。JS胎儿可合并C5orf42、TMEM216或ARMC9基因异常。 |
| 英文摘要: |
| Objective To explore prenatal imaging findings and genetic abnormalities of Joubert syndrome (JS). Methods Imaging findings of 11 fetuses diagnosed as JS by prenatal ultrasound and MRI,as well as genetic test results were retrospectively analyzed. Results Ultrasound and MRI showed abnormal cerebellar vermis in 11 fetuses, 10 with complete absence vermis and 1 with partial absence vermis. The morphological changes of the fourth ventricle were observed in 11 fetuses, which connected with the posterior cranial fossa, and the anterior and posterior diameters of the superior aspect of the fourth ventricle were larger than the transverse diameter. Ultrasound depicted the apex of the fourth ventricle became round and convex upward in the midsagittal section in 2 fetuses, while MRI found the above changes in all 11 fetuses. The "molar tooth sign (MTS)" was found in all 11 fetuses. Ultrasound detected clear "root",in 10 fetuses showed clear "crown" but in 1 fetus the "crown" was not obvious. MRI showed clear "root" and "crown" in all 11 fetuses. Genetic examination of 5 fetuses showed abnormal in 4 fetuses, including 2 with C5orf42 gene mutation, 1 with TMEM216 gene mutation and 1 with ARMC9 gene mutation. Conclusion MTS was the characteristic imaging manifestation of JS, while complete or partial loss of cerebellum vermis and morphological changes of the fourth ventricle were important imaging manifestations of JS. Combining ultrasound with MRI could improve prenatal diagnosis of JS. JS could associate with C5orf42, TMEM216 and ARMC9 genetic abnormalities. |
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