Multiple Epiphyseal Dysplasia

Multiple Epiphyseal Dysplasia

Multiple Epiphyseal Dysplasia

Normal

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

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

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

RadiographsSpine

T12/L1 notching and deformed ring apophysisHands

short, carpal bones more delayed than phalangeal epiphysis,

Hipsirregular thigh bone which is bilateral and

symmetricKnees

knock-knee or bow-leggedness

How about teaching computer to recognize multiple epiphyseal dysplasia?

Thanks for Your attention!!