Variant Analysis of Alkaptonuria Families with Significant Founder Effect in Jordan

Figure 1

The clinical features appeared in the investigated AKU patients. (a) The urine is converted from yellow to dark brown upon overnight standing, (b) brown spot appears in the sclera of the eye, (c) dark pigmentation of the teeth, (d) blue-black papules and plaques with pitting along the line of transgradience of the thumb and index finger, (e) bluish discoloration of the external ear cartilages, (f) ochronosis of the cartilage that cover the head of the humerus bone which is removed during the shoulder joint replacement surgery, (g) Achilles tendon rupture, (h) black renal stones from AKU patient, (i) ochronosis of the face and cheeks, (j) multiple degenerative changes in the dorsal spine with narrowing and calcifications of the intervertebral disc space shown in CT scan, and (k) black colour of the ear wax.