Figure 2.

Total skeletal radiography and MRI/MRA studies in subject F1:II-1 showing severe skeletal dysplasia with occipital horns, undertubulation of bony structures and broadening of the ventral end of the first left rib, both claviculae and scapular neck, bowing of the long bones with mid-diaphyseal broadening, bilateral luxation of the radial heads, bilateral overgrowth of the ulnar coronoid processes, prominent trochanter minor of both femurs, short fibula, bilateral coxa valga with rounded iliac wings and broad metatarsals. Brain MRI and angiography showed tortuous intracranial arteries and normal brain structure.