Oct

11

2021

What is the Paris-Trousseau/Jacobson syndrome?

By William Aird

Autosomal dominant disorder characterized by mild bleeding tendency, developmental delay, cardiac, skeletal, urogenital, central nervous system, gastrointestinal, and craniofacial abnormalities. Moderate to severe thrombocytopenia with giant alpha-granules in platelets that fail to release their contents upon stimulation with thrombin.