Figure 2
From: Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies
Skeletal radiograms of patients 1–3 (P1-P3). (a–c,i) P1 at age of 5 years and 10 months; (d–f,j) P2 at age of 5 years and 9 months; (g,h,k) P3 at the age of 6 years and 6 months. (a,d,g) Lateral spine. Note cupped anterior ends of the ribs (black arrows); (b,e,h) Pelvis and lower limbs. Short ilia, sclerotic iliac crest, narrow sciatic notch, horizontal acetabular roof, metaphyseal irregularities and sclerosis, metaphyseal flaring of the long tubular bones, short and curved tibia are seen; (e) Note schypodysplasia (white arrows) of the knees in P2 due to premature fusion of the growth plate; (c,f) Chest with short broad ribs, severe metaphyseal irregularity and sclerosis of the proximal humeri; (i–k) Hands. Note short phalanges and metacarpals. The distal radius and ulna show metaphyseal irregularities with irregular sclerosis.
