The Role of Ultrasonography in the Detection of Von Voss-Cherstvoy Syndrome: A Case Report and Review of Literature.

Von Voss-Cherstvoy syndrome is a very rare disorder involving upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia. Less than 15 cases have been reported, and we report one such case detected on routine anomaly scan at 23 weeks. The condition is associated with lethality or with unresolving morbidity, hence early antenatal detection is crucial for management. Through this case report, we aim to build on the scarce existing literature and highlight the pivotal identifying ultrasonographic features of this rare disease. We also describe a stepwise approach to differentiate it from other more common differentials.