case_images: PMC8606827_01
case_images: 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.
case_images: fped-09-698629-g0002.jpg
case_images: PMC8606827_01_fped-09-698629-g0002.jpg
case_images: F2
case_images: His ears were very prominent, which gave him the appearance of an elf (Figure 2).
case_images: PMC8606827_02
case_images: (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.
case_images: fped-09-698629-g0003.jpg
case_images: PMC8606827_02_fped-09-698629-g0003.jpg
case_images: F3
case_images: All children had the same typical disease manifestations (facial dysmorphism, dolichocephaly, prominent ears, and neurologic disorder (Figure 3; Table 1).