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我们在重庆市沙坪坝区遗传病病因调查中,发现一例先天性双侧桡骨完全缺如,现报道如下: 病例报告 患者,男性,16岁。第二胎足月产。出生时既发现双侧前臂显著短缩,双手拇指缺如,功能受限已16年。体检,智力正常。营养良好。身高157cm。头颈部无畸形。心肺无异常。肝脾不大。躯干及两下肢正常。双上臂等长,长度均为32cm。双前臂对称性明显缩短畸形,并向桡侧弯曲,长度仅12cm。
We investigated the cause of genetic disease in Shapingba District, Chongqing City, found a complete absence of congenital bilateral radius, are reported as follows: The patient reported cases, male, 16 years old. The second fetal full moon. Bilateral forearm was found not only significantly shortened at birth, both hands missing, functional limitations have been 16 years. Physical examination, mental normal. Good nutrition. Height 157cm. Head and neck without deformity. No abnormal heart and lung. Small spleen and liver. Trunk and two lower extremities normal. Double arm length, length are 32cm. Double forearm symmetry significantly shortened deformity, and bend to the radial side, the length of only 12cm.