Bone manifestations are often present in many rare disorders, impacting patient treatment and management. During this comprehensive presentation, three experts will discuss bone symptoms, management, and therapeutic options associated with rare skeletal conditions: Achondroplasia (ACH) is a disorder of bone growth, and the most common form of skeletal dysplasia, occurring in about one in every 40,000 births. Gaucher Disease (GD) is a lysosomal storage disorder with skeletal abnormalities of bone modeling, reduced bone density, bone infarction, and a major cause of pain, disability, and reduced quality of life. Hypophosphatasia (HPP), a progressive, debilitating and sometimes fatal metabolic bone disease, is characterized by defective bone mineralization that can result in deformity and destruction of bones, severe muscle weakness, respiratory failure, seizures, and premature death.
Join us as we explore the recent advances in the diagnosis and treatment of ACH and other causes of disproportionate short stature; increase awareness of bone pathology in GD that impact patient bone health; and discuss the importance of timely diagnosis in patients exhibiting clinical signs of HPP, using radiological findings and biochemical test results.
Schedule |
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| * Times are EST | |
| 06:45 AM | Breakfast Buffet |
| 07:00 AM | Welcome, Disclosures, Supporter Acknowledgements |
| 07:05 AM |
Achondroplasia
Eric Rush, MD, FAAP, FACMG, CCD Underdown Yeomans Family Endowed Professorship in Connective Tissue Disorders Care |
| 07:30 AM |
Gaucher Disease
Carlos E. Prada, MD Division Head, Genetics, Genomics and Metabolism |
| 07:55 AM |
Hypophosphatasia
Leanne M. Ward, MD, FRCPC Chair in Pediatric Bone Disorders |
| 08:20 AM | Audience Q&A |
| 08:30 AM | Adjourn |
EXCEL Continuing Education is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians.
EXCEL Continuing Education designates this live activity for a maximum of 1.5 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
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Physician assistants, nurse practitioners, and nurses may participate in this educational activity and earn a certificate of completion as AAPA, AANP, and ANCC accept AMA PRA Category 1 Credits TM through their reciprocity agreements.