Creighton University School of Medicine, Omaha, NE, USA.
Department of Radiology, Phoenix Children's, 1919 E. Thomas Rd, Phoenix, AZ, 85016, USA.
Pediatr Radiol. 2023 Sep;53(10):2144-2148. doi: 10.1007/s00247-023-05712-8. Epub 2023 Jul 10.
We describe prenatal diagnosis of Poland-Möbius syndrome using a combination of ultrasound and MRI. Poland syndrome was diagnosed based on absence of the pectoralis muscles associated with dextroposition of the fetal heart and elevation of the left diaphragm. Associated brain anomalies that led to the diagnosis of Poland-Möbius syndrome, included ventriculomegaly, hypoplastic cerebellum, tectal beaking, and a peculiar flattening of the posterior aspect of the pons and medulla oblongata, which has been reported by postnatal diffusion tensor imaging studies as a reliable neuroimaging marker for Möbius syndrome. Since abnormalities of cranial nerves VI and VII may be difficult to detect prenatally, careful attention to the appearance of the brain stem as illustrated in the current report may aid in the prenatal diagnosis of Möbius syndrome.
我们描述了一例波兰-莫比乌斯综合征的产前超声和 MRI 诊断。波兰综合征的诊断依据为:患侧胸大肌缺如,伴胎儿心脏右移,左侧膈肌抬高。导致波兰-莫比乌斯综合征的相关脑异常包括脑室扩大、小脑发育不良、顶盖切迹、桥脑和延髓后外观奇特变平,已有研究显示,这种后颅窝神经影像学改变是莫比乌斯综合征的可靠神经影像学标志物。由于颅神经 VI 和 VII 的异常可能难以在产前发现,因此,正如本报告所示,仔细观察脑干的外观可能有助于产前诊断莫比乌斯综合征。