The profound consequences of the results guide decisions about testing. Who should be tested? And, just as important, who should not?
In this podcast, Heidi Moawad, MD interviews Cesar Ochoa-Lubinoff, MD, MPH, FAAP, about recent encouraging clinical trial results in patients with Angelman syndrome.
Unusual Skin Elasticity, Joint Hypermobility, Violaceous Plaques in 3 Different Patients: What’s Your Diagnosis?
Digital extension; joint hypermobility; skin elasticity with keloid scars; pectus and scoliosis from skeletal flexibility and deformation; these disparate symptoms and findings point to what diagnosis?