FIGURE 1.

Photograph, family pedigree, and Sanger sequence results of the patients. (A): Case 1 shows hypertelorism, down-slanted palpebral fissures, a broad nasal root, low-set ears, and macrotia. (B): Case 2 shows hypertelorism, a high forehead, thick lower lip vermilion, and low-set posteriorly rotated ears. (C): Family pedigrees of cases 1 and 2. Neither patient had a family history of these mutations. (D): The (C)68G>T mutation was detected in case 1, and the c.71_72delinsAA variant was detected in case 2. Both variants were de novo.