ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: J Clin Invest 2017;127:3861-3865Metaphyseal chondrodysplasia, Schmid type (MCDS) is an orphan disease with highly abnormal endochondral ossification causing shortening and deformities of the limbs, impairment of mobility and chronic pain. As for most skeletal dysplasias, current treatment options remain symptomatic due to the lack in causal therapeutic measures. In the actua...