This is a recording of a session from the AMP 2019 Annual Meeting & Expo. Purchase the entire AMP 2019 Annual Meeting & Expo Recordings for a significant discount!
This session reviews the identification of disease genes and biologic mechanisms that lead to the inherited osteochondrodysplasia, a group of more than 350 distinct genetic disorders. This session specifically reviews the diagnosis and natural history from prenatal detection to adulthood, of patients with FGFR related disorders including, but not limited to, achondroplasia, hypochondroplasia and thanatophoric dysplasias types I and II.
The Skeletal Dysplasias; the Long and Short of It
Deborah Krakow, FACMG, UCLA School of Medicine, Los Angeles, CA USA
Objectives:
- Recognize the radiologic differences between thanatophoric dysplasias types I and II.
- Recognize the phenotypic impact of single base changes in the FGFR3 gene.
Duration: 1.00 hr
Recording Date: November 9, 2019
CME/CMLE credit: 1.00 hr
Last day to purchase course and CE claim credit: December 24, 2022
