PMC7190791_01
Phenotypes presented in the patient with KAT6B genetic variant. (A) Congenital horseshoe varus foot at birth. (B,C) Narrow palpebral fissure, ptosis, a broad nasal bridge, bulbous nasal tip, small mouth, thin upper lip, great toes. (D) Stand up with assistance when she was 19 months.
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F1
Moreover, facial deformity was manifested as narrow palpebral fissures, ptosis or flagging eyelids, a broad nasal bridge with a bulbous nasal tip, a small mouth, thin upper lip, and small, low set ears (Figure 1).