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. 2014 May 1;94(5):784–789. doi: 10.1016/j.ajhg.2014.04.006

Figure 2.

Figure 2

Facial Features of Probands

(A) Subject 1 (17 months old) with a round face, full cheeks, horizontal eyebrows, a depressed nasal bridge, anteverted nares, hypoplastic alae nasi, tented upper-lip vermillion, and microstomia.

(B) Subject 2 (4 years old) with thin eyebrows, a depressed nasal bridge, a bulbous nasal tip, and protuberant ears.

(C) Subject 3 (8 years old) with horizontal eyebrows, low-set ears, simple earlobes, and micrognathia.

(D) Subject 4 (21 months old) with a round face, full cheeks, horizontal eyebrows, a depressed nasal bridge, anteverted nares, tented upper-lip vermillion, and microstomia.

(E and F) Front (E) and side (F) views of subject 4 (9 years old) with a round face, full cheeks, horizontal eyebrows, an acute nasal angle, and fleshy pinna.