# Radiological Diagnosis of Crouzon Syndrome: A Case Study

## TL;DR

This paper presents a rare case of Crouzon syndrome in a young girl, highlighting its craniofacial features and confirming the diagnosis with imaging and genetic studies.

## Contribution

The novelty lies in the detailed radiological and genetic confirmation of Crouzon syndrome in a pediatric patient with dental and craniofacial abnormalities.

## Key findings

- A four-year-old girl exhibited classic Crouzon syndrome features including forward jaw displacement and bulging eyes.
- Cranial CT with 3D reconstruction and genetic testing confirmed the diagnosis.
- Dental abnormalities were noted, emphasizing the need for comprehensive evaluation in craniofacial disorders.

## Abstract

Crouzon syndrome, distinguished by a classic trio of an atypical skull structure, distinctive facial features, and protruding eyes, ranks among the most prevalent types of craniofacial dysostosis. Therefore, patients presenting with dental abnormalities are under-reported in medical literature despite the developmental neurological defects. We report a rare case of Crouzon syndrome in a four-year-old girl who had forward displacement of the lower jaw, bulging eyes, undeveloped upper jaw, and dental abnormalities. She was evaluated with cranial computed tomography with three-dimensional reconstruction; genetic studies confirmed the findings.