PMC9441657_01
Growth chart of the patient. The black dot represents the height at the respective age; the red triangle indicates the height at the corresponding bone age.
fped-10-933108-g001.jpg
PMC9441657_01_fped-10-933108-g001.jpg
F1
His height was 67 cm (-3.52SDS) at 1 year of age, 75 cm (-3.97SDS) at 2 years old, 82 cm (-3.89SDS) at 3 years old, and 84.5 cm (-5.02SDS) at 4 years old (Figure 1).
(A) Full body photograph of the patient. (B) Photograph of the child's face: zygomatic arch dysplasia, a high forehead, low anterior hairline, low-set ears, a long nasal tip and columella, and a small mouth. (C) Photograph of the child's irregular teeth. (D) Photograph illustrating the livedo on the skin of the patient's thigh. (E) X-ray of the left hand. The white arrow indicate a thickened radial cortex, a narrow medullary cavity, and a bent radial diaphysis.
fped-10-933108-g002.jpg
PMC9441657_01_fped-10-933108-g002.jpg
F2
His limbs were short (Figure 2). An X-ray of the left hand revealed a thicker cortex with a narrowed medullary cavity and a bent radial diaphysis (Figure 2).
The POLE gene sequencing map of the patient and his parents. The red arrow indicate the sites of mutations.
fped-10-933108-g003.jpg
PMC9441657_01_fped-10-933108-g003.jpg
F3
A), resulting in a truncated protein (p.W669X). According to the American College of Medical Genetics and Genomics (ACMG) guidelines, these variants were classified as likely pathogenic (PVS1 + PM2-p) (Figure 3).