Fig. 1.

Facial features of patients. Patient 1 at 2 years and 10 years (a, b); Patient 2 at 2 years, 4 years, 7 years 8 months and 17 years (c–f);Patient 3 at 9 years (g). Patient 1 has a depressed nasal bridge, hypertrichosis and synophrys. Patient 2 has a broad nasal base, anteverted nares, widely spaced teeth, smooth upper lip and mild occipital plagiocephaly. Patient 3 has a number of described features including narrowing of the bi-frontal regions, prominent and broad forehead, hypertelorism, striking blue eyes, flat nasal tip and thick lower lip vermillion