PMC7381489_01
PMC7381489_02
Lower extremeties of the male patient A, B) X-ray at age 26 showing non-union of supracondylar right femur and lysis of tibial plateau with varus union of the left femur and tibial diaphysis. C) clinical appearance at age 29 showed leg length discrepancies of 7 cm and varus left leg.
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At the latest X-rays, in 2013 by the age of 26, showed complete lysis of both epiphyses of the right femoral and tibial side with malunion of the left diaphysis of femur and tibia as sequelae of previous fractures (Fig. 3).
PMC7381489_03
Right ankle of the female patient after ankle fracture dislocation: A) X-ray at age 7 two months after kirschner wire fixation B) X-ray showed right ankle destruction 5 years after surgery C) clinical appearance at age 15 with flail ankle.
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PMC7381489_04
Right ankle of the female patient after ankle fracture dislocation: A) X-ray at age 7 two months after kirschner wire fixation B) X-ray showed right ankle destruction 5 years after surgery C) clinical appearance at age 15 with flail ankle.
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Lower left leg of the female patient A) X-ray showed tibial shaft fracture at age 12 and B) bone union after 6 months of casting.
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Afterward, we recorded multiple fractures and dislocations of this patient: a right hip dislocation at age 7, a minimal epiphysiolysis fracture of the left distal radius and left diaphyseal tibial fracture (Figs. 5a and b) at the age of 12, and a left knee dislocation at the age of 13, all caused by minor trauma.
PMC7381489_05
All mutations in the NTRK1 gene in patients with CIPA. Red letters indicate the novel mutations found in this study.
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There were mutations in exon 1: c.253C>A (R85S) from the mother and in exon 13:c.2074C>T (R692C) from the father. These mutations were found in both patients, as they inherited them from each parent. The eldest son inherited only one mutation from his father. (Fig. 6).
PMC7381489_06