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

Clinical Case Reports 2026 Open access

Read full text
Authors: Saad Abdullah Bin Owaimer, Fatimah H. Abusrair, May R Mutlaq, Eissa A. Faqeih, Leen Abu‐Safieh
DOI: 10.1002/ccr3.71834
Cited by: 0
References: 3

Abstract

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.

Fields of Study & Subjects

Genomics and Rare Diseases Genetic and rare skin diseases. Genetics and Neurodevelopmental Disorders

Publication details

Journal / source
Clinical Case Reports
Volume
14
Issue
2
Pages
e71834–e71834
Publication date
1 February 2026
Language
EN