# Saul Wilson Syndrome: A Case Report With New Features in Saudi Arabia

## TL;DR

This paper presents the first case of Saul Wilson syndrome in Saudi Arabia with new facial features, highlighting the variability in this rare genetic disorder.

## Contribution

The paper reports previously unreported facial dysmorphic features in a Saudi patient with Saul Wilson syndrome.

## Key findings

- The case expands the known phenotypic spectrum of Saul Wilson syndrome.
- It highlights the importance of recognizing phenotypic variability in rare genetic disorders.

## Abstract

Saul Wilson syndrome is an extremely rare genetic disorder caused by heterozygous de novo mutations in the COG4 gene. We report the first case from Saudi Arabia with previously unreported facial dysmorphic features, expanding the known phenotypic spectrum and emphasizing the importance of recognizing phenotypic variability in rare disorders.