Fig 1: JMC and BOCD patients show aberrant differentiation of skeletal progenitors. (A–F) Masson Goldners staining of Control (A, D), JMC (B, E) and BOCD (C, F). Note the accumulation of fat and the small region of cartilage in the trabecular bone of JMC patients (magnification in B), and the invasion of chondrocytes in the trabecular bone of BOCD patients (magnification in C). Arrows point to calcified islands, asterisks indicate undermineralized trabecular bone. (G–I) Immunolocalization of ALP of Control (G), JMC (H) and BOCD (I). (J–L) Immunolocalization of AGGRECAN in Control (J), JMC (K) and BOCD (L). ALP staining demonstrates decreased bone mass in JMC and BOCD patients; AGGRECAN immunolocalization confirms the presence of cartilage in JMC and BOCD trabecular bone. (M–Q) Immunolocalization of DEPTOR in Control (M), JMC (N, P) and BOCD (O, Q). JMC, Jansen Methaphyseal Chondrodysplasia; BOCD, Blomstrand Chondrodysplasia; ALP, Alkaline phosphatase. Scale bars, 100 µm.