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. Author manuscript; available in PMC: 2024 Jul 1.
Published in final edited form as: Am J Med Genet A. 2023 May 14;191(7):1900–1910. doi: 10.1002/ajmg.a.63226

Figure 3.

Figure 3.

Figure 3.

Figure 3.

Figure 3.

(A) In infancy and early childhood, the common facial gestalt is more easily recognizable, particularly the broad forehead and wide mouth with thin upper lip. (B) School age. (C) Adulthood. (D) Familial cases. (E) Hands and feet of affected individuals, illustrating the small size and hypoplastic nails in some.