Figure 3.

Histological and Immunohistochemical Analysis

(A, B, E, F) Normal resting cartilage and growth plates with disorganization of endochondral ossification in the affected individuals P1 (A, B) and P3 (E, F). Note the reduced number of chondrocytes in the epiphyseal zone of proliferation and the diminished cartilage-column formation of the growth zone.

(C, D) Additional lack of columnization of the enchondral ossification of the epiphyses of the ribs. Here, the growth zone was lined in a semicircle around the osseous center of the rib bone.

(G, H) The growing cartilage of the tibial bone formed a semicircle around the metadiaphyseal zone, with heterotopic ossification.

(I, J) Polycystic kidney disease was found in affected individual P1 with dilatated collecting tubules, glomerules of differing size, and well developed glomerules with dense convolutes of capillary vessels. (K) Immunohistochemical analysis showed small islands of persistent hypertrophic chondrocytes with expression of collagen X within osseous trabecules.