Snijders Blok-Campeau Syndrome Associated with Pulmonary Arterial Hypertension: A Case Report.

ABSTRACT: Background 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 syndrome and the development of pulmonary vasculopathy. However, further validation is required. Conclusions: We suggest an important role for DDX3X in the development of the pulmonary vasculature.

SUBMITTER: Paul L 

PROVIDER: S-EPMC12196541 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature