Figure 1

Photographs of the proband at 8 (A, B) and 12 (C-F) years of age. (A) At the age of 8 the proband patient had blue eyes, epicanthus, down-slanting palpebral fissures, hypertelorism, coarse facial features, facial lentigines, and curly blond hair. (B) Pterigium colli, pectus excavatum, hypertelorism, lentigines, and a large CALM were noted. At the age of 12 years, the proband showed (C) persistence of the facial dysmorphism previously noted; (D) low-set and posteriorly rotated thick, large ears with lobe creases; and (E, F) low posterior hair line and CALMs and an increased number, more widespread pattern of distribution, and deeper color intensity of lentigines.