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Figure 1: (a) Pedigree of the family of the proband. (b) Facial clinical characteristics of the proband. Note the triangular face, wide forehead, and prominent chin. (c) Deep-set eyes. (d) Altered liver function analysis. (e) X-ray analysis showing butterfly-like dorsal vertebra (white arrow). (f) Capillary sequencing analysis demonstrating the mutation in the proband. (g) Wild-type sequence in one of the parents.