# A unique case of prenatal diagnosis of vascular Ehlers‐Danlos syndrome

**Authors:** Emma Bertucci, Sofia Ceffa, Sartor Giovanna, Maria Gnazzo, Antonio Novelli, Antonio La Marca

PMC · DOI: 10.1002/ijgo.70431 · International Journal of Gynaecology and Obstetrics · 2025-08-07

## TL;DR

This paper reports a rare prenatal diagnosis of vascular Ehlers-Danlos syndrome without family history, based on an unusual ultrasound finding.

## Contribution

The study presents a novel prenatal case of vEDS identified through an atypical facial anomaly detected by ultrasound.

## Key findings

- A facial anomaly detected via ultrasound led to the prenatal suspicion of vEDS.
- This case is unique as it lacks a family history of the condition.
- The finding expands the prenatal presentation of vEDS previously only observed in adults.

## Abstract

We present a rare instance of prenatal diagnosis of vEDS without a family history. The suspicion of a genetic syndrome arose from an incidental ultrasound finding of a facial anomaly—previously associated with vEDS in adulthood but never described prenatally.

## Linked entities

- **Diseases:** vascular Ehlers-Danlos syndrome (MONDO:0017314)

## Full-text entities

- **Diseases:** genetic syndrome (MESH:D030342), facial anomaly (MESH:C557821), Ehlers-Danlos syndrome (MESH:D004535)

## Full text

_Full body text omitted from this summary view._ Fetch the complete paper as Markdown: https://tomesphere.com/paper/PMC12790657/full.md

## Figures

1 figure with captions in the complete paper: https://tomesphere.com/paper/PMC12790657/full.md

## References

8 references — full list in the complete paper: https://tomesphere.com/paper/PMC12790657/full.md

---
Source: https://tomesphere.com/paper/PMC12790657