Figure 3.

Figure 3.

Facial appearance of individuals with SETD2-NDD with multiple congenital anomalies

Patient 2 at age seven years (A); at age ten years (B-C)

Patient 4 in infancy (D-E)

Patient 5 in infancy (F-G); as a toddler (H-I)

Patient 6 as a toddler (J)

Patient 7 at age two weeks (K)

Patient 8 at age two years (L); at age 12 years (M)

Patient 10 at age five weeks (N-O)

Common facial features include widely spaced eyes, micrognathia, small upturned nose, biparietal narrowing, small forehead, microcephaly, flat face, short palpebral fissures, arched eyebrows, strabismus, broad nasal bridge and tip of the nose with low hanging columella, maxillary and mandibular hypoplasia, and slightly forward facing ears.

Reprinted from Rabin et al [2020]

From: SETD2 Neurodevelopmental Disorders

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