case_images: PMC10798831_01
case_images: Pedigree of a family with Perrault syndrome. Proband (II-1), father (I-1), mother (I-2), and younger siblings (II-2, II-3).
case_images: CRIM2024-5319443.001.jpg
case_images: PMC10798831_01_CRIM2024-5319443.001.jpg
case_images: fig1
case_images: Asian ethnicity reported a complaint of regression of speech, delay in psycho-motor development, and inability to walk independently. According to medical records, the parents were 21 and 22 years old with no consanguinity at the time of conception, and it was the first pregnancy (Figure 1).
case_images: Sanger sequencing traces of family with Perrault syndrome. Parents (I-1, I-2) and proband (II-1).
case_images: CRIM2024-5319443.002.jpg
case_images: PMC10798831_01_CRIM2024-5319443.002.jpg
case_images: fig2
case_images: Results of Sanger sequencing of 11 and 15 exons and exon-intron boundaries of the HSD17B4 gene revealed two potential sequence variants: c.1333 + 2T > C from his mother and c.743G > A from his father (Figure 2).