The Role of Ultrasonography in the Detection of Von Voss-Cherstvoy Syndrome: A Case Report and Review of Literature.
Mukesh Mittal, Anupam Rajoria, Ravi Raliya
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Case in brief
A case of Von Voss-Cherstvoy syndrome was identified during a routine fetal anomaly scan at 23 weeks’ gestation. The syndrome involves upper-limb abnormalities, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia. The report describes ultrasonographic features used to identify the condition and a stepwise approach to distinguish it from more common differential diagnoses. The abstract does not provide further case-specific findings or describe the pregnancy outcome.
What made this case unusual
The report focuses on antenatal recognition of a very rare syndrome with a combination of limb, cranial, urogenital, and hematologic features, using ultrasonography to support differentiation from more common diagnoses.
Diagnostic / clinical pearl
When fetal anomaly scanning shows features involving the limbs and central nervous system, consider the broader pattern of abnormalities, including urogenital findings, to help distinguish Von Voss-Cherstvoy syndrome from other diagnoses.
Why it matters
The authors note that the condition is associated with lethality or unresolving morbidity, making antenatal detection relevant to management.