Journal of Clinical Pediatrics ›› 2019, Vol. 37 ›› Issue (3): 200-.doi: 10.3969/j.issn.1000-3606.2019.03.010
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WANG Qingli, HU Guangjun, TAN Shigang, SONG Xiaoyang
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Abstract: Objectives To explore the clinical features of skeletal injury in patients with congenital insensitivity to pain with anhidrosis (CIPA). Method The age at onset, location, number of recurrences, causes, treatment and prognosis of skeletal injury in patients were retrospectively analyzed. Results Most of the bone injuries occurred repeatedly in multiple places without obvious inducement. The age at onset being mostly from 3 to 6 years, and most of the injuries occurred in the lower limbs. The bone injury happened 100% in patients over 6 years old. Conclusion Repeated bone damage in patients with CIPA may be due to skeletal dysplasia caused by NTRK1 gene mutation.
Key words: congenital insensitivity to pain with anhidrosis; fracture; dislocation; NTRK1 gene
WANG Qingli, HU Guangjun, TAN Shigang, et al. Investigation and analysis of clinical characteristics of bone damages in patients with congenital insensitivity to pain with anhidrosis[J].Journal of Clinical Pediatrics, 2019, 37(3): 200-.
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URL: https://jcp.xinhuamed.com.cn/EN/10.3969/j.issn.1000-3606.2019.03.010
https://jcp.xinhuamed.com.cn/EN/Y2019/V37/I3/200
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