PMC3000393_01
facial appearances of the three patients, demonstrating coarse features, multiple naevi and the characteristic nose of 17q21.31 deletion. Figure 1i-l: hands of the four patients, showing thickened skin, particularly marked in patient 1. m: area of hyperpigmentation on the trunk of patient 3. n: soles of patient 4, demonstrating deep creases and dry skin.
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PMC3000393_01_ukmss-32110-f0001.jpg
F1
She has coarse textured, dry hair, relatively coarse facial features, as shown in Figure 1(c,g), and an unusual thickened hyperpigmented area of skin on her upper abdomen, as shown in Figure 1m. She has a broad nasal tip, upslanting palpebral fissures, and a long face with a thin upper lip (Figure 1d,h). Her palmar and plantar creases are deep (see Figure 1l,n), and she has recently been diagnosed with cataracts.