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. Author manuscript; available in PMC: 2023 May 23.
Published in final edited form as: Am J Med Genet A. 2023 Feb 24;191(5):1282–1292. doi: 10.1002/ajmg.a.63150

FIGURE 3.

FIGURE 3

Facies comparison of similar facies of Proband 3 (a) and Proband 4 (b). Proband 3 (a) with an enlarged head with microphthalmia and hypotelorism. The columella is absent, resulting in a fused single nostril although the nasal septum is present internally. The philtrum is long with a wedge-shaped depression below the fused nostril, and there is micrognathia. Comparison of hands of Proband 3 (C) and Proband 4 (D). Proband 4 (D) with hypoplastic, poorly demarcated middle phalanges on digits 2–5, with short, thick fingers.