PMC8606827_01
Two siblings: (A) a 3 month-old infant (child 5) with craniofacial dysmorphism; (B,C) a 5- year 5-month-old girl (child 3) with craniofacial dysmorphism, mandibular hypoplasia, dental abnormalities, malocclusion, and intellectual disability.
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F2
His ears were very prominent, which gave him the appearance of an elf (Figure 2).
PMC8606827_02
(A,B): First patient (child 4) at 2 years and 10 months. He had craniofacial dysmorphism, ears with thin helices, deep conchae, and hypoplastic lobules.
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F3
All children had the same typical disease manifestations (facial dysmorphism, dolichocephaly, prominent ears, and neurologic disorder (Figure 3; Table 1).