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Saul Wilson Syndrome: A Case Report With New Features in Saudi Arabia
Saad A Bin Owaimer1, Fatimah H Abusrair2, May R Mutlaq3
1Physician, General Pediatrics National Guard Hospital Riyadh Kingdom of Saudi Arabia.
Clinical Case Reports
|February 11, 2026
Summary
Saul Wilson syndrome, a rare genetic disorder from mutations in the COG4 gene, is detailed in the first Saudi Arabian case. This case expands the syndrome's known features, highlighting the need to recognize variability in rare genetic conditions.
Area of Science:
- Genetics
- Rare Diseases
- Clinical Medicine
Background:
- Saul Wilson syndrome is an extremely rare genetic disorder.
- It is characterized by heterozygous de novo mutations in the COG4 gene.
Purpose of the Study:
- To report the first case of Saul Wilson syndrome in Saudi Arabia.
- To describe previously unreported facial dysmorphic features associated with the syndrome.
- To expand the known phenotypic spectrum of Saul Wilson syndrome.
Main Methods:
- Case report.
- Clinical examination.
- Genetic analysis (implied).
Main Results:
- First documented case of Saul Wilson syndrome in Saudi Arabia.
- Identification of novel facial dysmorphic features.
- Expansion of the phenotypic variability for Saul Wilson syndrome.
Conclusions:
- The first Saudi Arabian case of Saul Wilson syndrome is presented.
- New facial dysmorphic features are described, broadening the syndrome's phenotype.
- Recognizing phenotypic variability is crucial for diagnosing rare genetic disorders like Saul Wilson syndrome.
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