Fig. 2

Physical features in individuals with 16p11.2 microdeletions. Individuals are aged <1 year a, 2 years b, 3 years c, d, 4 years e, f, 8 years g, 9 years h, 10 years i, j, 18 years k and 20 years l. m Foot of individual shown in (k). Note 2–3 syndactyly and small toenails. n Profile of individual shown in (g). Note hypoplastic ear with Darwinian tubercle and fleshy lobe. Ears are also fleshy and/or prominent in individuals (b, e, i, j). Individual (g) also has bilateral iris coloboma. Other features noted include frontal bossing (f, j, k), flattened midface (h, j, k), broad nose (b, e), retrognathia (a, j, k), short, thick, or webbed neck (e, g, j), downturned mouth (e, g, h) and synophrys (k, j)