1. Multiple Epiphyseal Dysplasia

2. Multiple Epiphyseal Dysplasia
Normal

3. What is Multiple Epiphyseal Dysplasia?
Multiple epiphyseal dysplasia (MED) is a common form of skeletal dysplasia, and it is characterized by variable degrees of epiphyseal* abnormality.
* epiphysis is an either end of a long bone

4. But in fact, it’s rather a group of diseases
But in fact, it’s rather a group of diseases. Mutations in six non-allelic genes are associated with MED (COMP, DTDST, MATN3, COL9A1, COL9A2 and COL9A3)
...and depending on which gene is affected presentation of MED may vary
...however, radiologic diagnosis of MED is possible

8. MED may be uncommon in physician’s daily practice, and not all of doctors are able to recognize it.

9. Radiographs Spine Hands Hips Knees
T12/L1 notching and deformed ring apophysis
Hands
short, carpal bones more delayed than phalangeal epiphysis,
Hips
irregular thigh bone which is bilateral and symmetric
Knees
knock-knee or bow-leggedness

10. How about teaching computer to recognize multiple epiphyseal dysplasia?

11. Thanks for Your attention!!