Distinctive facial features in Andersen-Tawil syndrome: A three-dimensional stereophotogrammetric analysis.

Abstract excerpt

Andersen-Tawil syndrome (ATS) is a rare potassium channelopathy causing periodic paralysis, cardiac arrhythmias, and dysmorphic features. A detailed analysis of the face could facilitate diagnosis of ATS, as approximately 30% of patients do not show variants in KCNJ2 gene, and diagnosis is established by clinical findings. We aimed to characterize the face in ATS through a quantitative approach, as facial...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Andersen Syndrome
• Share to Case-Control Studies