Figure 2

Patient 1 shows diffuse scalp hair loss, decreased eyebrow, prominent scalp veins, bulbous cheeks, tapered nasal tip, irregular teeth and lower jaw dental crowding, loss of subcutaneous fat, and mottled pigmentation and sclerodermatous changes over her trunk and lower limbs with protuberant abdomen and easily visible veins on abdomen (A-G), thickened skin on heels and around the ankles (A-C), severe contractures at the interphalangeal joints of the hands with flexion deformity of fingers (H, I). Lower skeletal density in upper limb with flexion deformity of fingers, and delayed bone age with absence of the lesser multangular bone, the great multangular bone, and the scaphoid bone (J). Pyriform thorax with absence of the clavicles, and absence of posterior parts of the 2^nd and 3^rd ribs on both sides, and thin posterior parts of the 4^th to 6^th ribs on left side and the 4^th on right (K). Normal clavicle images on the prior chest scan of computed tomography in 2009 (L).