Figure 6.
X-ray analysis of the human patella/knee region
(A and B) The knees of two COL12A1 deficient siblings (1 + 2) with mutation of COL12A1 c.8006 + 1G>A8 were investigated by X-ray analysis. Frontal views reveal the localization of the patella (p), tibia (t) and femur (f) (upper panel). X-ray analysis of the bent knees to visualize the femoral groove and the patella (lower panel).
(C) Frontal view – knee from a homozygous patient (3) with an autosomal recessive mutation of COL12A1: c.5230 + 1G>A. Dislocation of the patella is indicated.
(D) Representative MRI-images of the malformed femoral groove in the novel patient (3) and in previously described autosomal dominant patients with mutation of COL12A1: G8357A (4 and 5) (Family 1a and 1b6) compared to normal. The position of femur (f) and patella (p) is indicated.