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. Author manuscript; available in PMC: 2021 May 1.
Published in final edited form as: Am J Med Genet A. 2020 Feb 21;182(5):1053–1065. doi: 10.1002/ajmg.a.61518

Figure 1. Facial features of three individuals with KMT2D missense variants.

Figure 1.

A-C: Patient 1, at age 12 months, 5 years, and 15 years. Arched eyebrows, depressed nasal bridge, small alae nasi, tented upper lip. D-F: Patient 2, at age 5 years, 8 years, and 15 years. Up-swept frontal hair line, widely spaced eyes, downslanting palpebral fissures, flat and wide nasal bridge, narrow and hypoplastic alae nasi, pointed nasal tip with low hanging columella, and a very thin upper lip with downturned corners. G-I: Patient 3, at age 8 months, 10 years, and 13 years. Tall, broad forehead with deep-set eyes, small nose, thin lips, dry, curly, and coarse hair. J: Patient 4, at age 24 years. Broad, depressed nasal tip and right facial nerve palsy. Reproduced, with permission, from Sakata et al., 2017.