Figure 1.

Individual 1 at the Age of 29 Years

(A and B) He had sparse and blond hair, bitemporal prominences, and closely spaced eyes. He had a long nose with a convex ridge, a narrow philtrum, and retrognathia.

(C and D) He had severe contractures and shortening of his fingers and toes with small, broad, and thick toenails. The nodules and scar-like lesions on the hands, feet, and elbows reported earlier in life had resolved, although the individual had thin skin with prominent venous patterning and hyperkeratotic palms and soles with significant callus formation on the soles.