Snijders Blok-Campeau Syndrome Associated with Pulmonary Arterial Hypertension: A Case Report
Luisa Paul, Victoria C. Ziesenitz, Matthias GorenfloUniversity Hospital.Germany ReportsReports 2025; 8: DOI: 10.3390/reports8020047 AbstractBackground and Clinical Significance: We report on an infant with Snijders Blok-Campeau syndrome (psychomotor developmental delay, CNS malformations) and a complex heart defect with pulmonary arterial hypertension. Case Presentation: A DDX3X mutation encoding for RNA helicase was detected, which may suggest an association between Snijders Blok-Campeau […]
