PMC9845248_01
The clinical and sequencing data of this patient. (A) Ultrasonic examination of the patient's eye. Physical features of this patient included (B) caries and (C) the auricles of both ears were small, and the contour was abnormally folded. (D) Skeletal radiography of the patient's knees. (E) The pelvic radiographs of the patient. (F) Sanger DNA sequencing chromatogram detected a compound heterozygous missense mutation (NM_004793: c.2009C>T/p.A670V and c.2014C>T/p.R672C) of LONP1 gene in the patient.
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F1
Subsequently, the boy was diagnosed with cataracts (Figure 1A), nystagmus and undergo binocular lens extraction. His teeth began to grow at 9 months, and caries developed at 2 years old (Figure 1B). The auricles of both ears were small, and the contour was abnormally folded (Figure 1C), but the hearing was normal. The X-ray at 2 years suggested knee valgus (Figure 1D), small, irregular and cracked femoral epiphyseal ossification center (Figure 1E).