PMC9304686_01
Series radiographs of pelvis from a boy with Perthes disease presentation. (A) Pelvic radiograph of a 7.5 years old boy (March 2016). (B) Postoperative pelvic radiograph (March 2016). (C). 4 months after operation (July 2016). (D). 7 months after operation (October 2016). (E) 11 months after operation (February 2017). (F). 12 months after primary operation, and 1 month after implant removal (March 2017). (G) 3 months after implant removal (April 2017). (H) 1 year after implant removal (March 2018). (I) 2 years after implant removal (January 2019). (J) 3 years after implant removal (November 2019). (K) 4 years after implant removal (October 2020). (L) 5 years after implant removal (January 2022).
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F1
Series radiographs in the subsequent follow-ups demonstrated the progression of Perthes disease (see Figure 1).
Radiograph of left elbow joint from conservative treatment. (A) AP view of elbow joint. (B) Latereal view of elbow joint.
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F2
In the past few years, he suffered from multiple fractures in his left upper extremity around elbow joint; however, he did not undergo any surgical treatment (see Figure 2).
Sanger sequencing unravel gene mutation in COL1A1. (A) Wild type was detected in the COL1A1: NM_000088: exon25: c.C1726T: p.Q576X without mutation in the father. (B) Heterozygous mutation in the COL1A1: NM_000088: exon25: c.C1726T: p.Q576X of the mother. (C) Heterozygous mutation in the COL1A1: NM_000088: exon25: c.C1726T: p.Q576X of the patient.
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F3
Subsequently, gene mutation in COL1A1 (OMIM 166200) was unraveled by whole exome sequencing (see Figure 3). Sanger sequencing was performed on the patient and their parents, suggesting that the variation was inherited from the mother (see Figure 3).
Radiograph of 13-year-old boy with right femoral fracture. (A) Full-length AP view of lower extremity before surgery. (B) Lateral of femur after surgery. (C) Full-length AP view of lower extremity after surgery.
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F4
Therefore, telescopic nailing was used to treat the femoral shaft fracture (see Figure 4).