Findings on physical examination revealed striking dolichocephaly with coarse facial features. The forehead was prominent and the eyes symmetrically proptotic (Figure 1). Findings on oral examination showed an enlarged tongue and mild enamel defects of the teeth. The spleen was not palpable, but the liver edge was palpable 3 cm below the right costal margin. Severe claw-hand deformities were present (Figure 2) as well as a decreased range of motion of the elbows and knees and severe hip flexion contractures. The skin felt thickened and demonstrated hypertrichosis as well as groups of bilaterally symmetrical, firm, nontender, discrete, ivory-colored 0.3- to 0.5-cm-diameter papules over the chest, upper arms (Figure 3), scapulae, and thighs. No corneal clouding was present, but findings from auditory testing revealed a moderate to severe combined sensorineural and conductive hearing deficit.