Figure 4.

Facial phenotype. (a) Patients with a small deletion show a high forehead, a broad nose tip and a thin upper lip. (b) Patients with a medium deletion show a high forehead, deep-set eyes, a short nose in younger children, a small upper lip and often curly hair. (c) Patients with a large deletion show a round face in younger children, a long face in adult patients, a high forehead, a short nose, a long philtrum in older patients, a small upper lip and down-turned corners of the mouth. Patients 4, 8, 11, 20, 72, 76, 77 and 81 have hypertelorism, low-set ears and micrognathia.