Figure 1.

Pedigree and Clinical Features of the Families

(A) Pedigree of the six families included in the study. Filled objects indicate affected status and arrows indicate the probands.

(B) Proband of family 1 (1-II.4) is shown with arched eyebrows, synophrys, left convergent strabismus, flat nasal bridge, hypertrichosis, long philtrum, thin upper vermillion, and low set pinnae with prominent lobules (1 and 2). His elder sibling (1-II.1) has inverted triangular face, thick arched eyebrows, hypertelorism, flat nasal bridge, long philtrum, thin upper vermillion and pointed chin and low set pinnae with prominent lobules (3 and 4). Proband of family 2 (2-II.3) shown with short low anterior hairline, synophrys with thick eyebrows, long eyelashes, hypertelorism, broad flat nasal bridge, upturned nose, triangular upper lip, prominent chin, and low set ears with prominent lobules (5 and 6). His eldest sister (2-II.1) has thick eyebrows, hypertelorism, broad nasal bridge, nasal tip, posteriorly rotated prominent ears, and big ear lobules (7 and 8). His elder sister (2-II.2) has thick eyebrows, broad nasal bridge, nasal tip, and big ear lobules (9). In family 3, the proband (3-II.1) is shown with triangular face, pointed chin, thick arched eyebrows, short nose, long philtrum (10) and posteriorly rotated prominent ear lobules (11). The proband in family 4 is shown with triangular face with pointed chin, thick arched eye brows, short nose, long philtrum (12) and prominent posteriorly rotated ear lobules (13). In family 5, the elder sibling of the proband (5-II.2) (14-15) and the proband (5-II.3) (16-17) are shown with similar facial gestalt of thick arched eyebrows, low set ears with under folded helix, prominent nose, short philtrum, prominent cupid bow upper lip, and increased volume of lip vermillion. Proband of family 6 is shown with thick arched eye brows, deep set eyes, long philtrum, and pointed chin (18).