Prenatal diagnosis of Poland-Mobius syndrome by multimodality fetal imaging

We describe prenatal diagnosis of Poland-Mobius 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-Mobius 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 Mobius 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 Mobius syndrome.

Automated summary

We present a method for prenatal diagnosis of Poland-Mobius syndrome using both ultrasound and MRI. The diagnosis of Poland syndrome was based on the absence of pectoralis muscles, dextroposition of the fetal heart, and elevation of the left diaphragm. Associated brain anomalies, including ventriculomegaly and abnormalities in the posterior aspect of the brain stem, were identified as reliable markers for Mobius syndrome. Careful examination of the brain stem can aid in the prenatal diagnosis of Mobius syndrome.