目的 :探讨苯丙酮尿症患者的骨骼X线学表现。方法 :37例苯丙酮尿症 ,其中男性2 5例、女性 1 2例 ,年龄 6个月～ 9岁。所有病例都作手、腕和膝关节X线检查以及实验室检查。结果 :苯丙酮尿症骨骼改变分为 6种情况 :未见异常 ,脱钙 ,干骺端改变 ,特殊改变 ,骨年龄滞后和其它。特异性改变包括骨干条纹状改变 ( 1 2例 )和干骺端鸟嘴状突起( 2 1例 )。结论 :苯丙酮尿症特异性的骨骼改变是诊断苯丙酮尿症的重要X线征。 Objective: To investigate the skeletal X-ray findings of patients with phenylketonuria. Methods: 37 cases of phenylketonuria, including 25 males and 12 females, aged 6 months to 9 years. All cases were performed hand, wrist and knee X-ray examination and laboratory tests. RESULTS: Bone changes in phenylketonuria were divided into six groups: no abnormalities, decalcification, metaphyseal changes, specific changes, bone age lag, and others. Specific changes include skeletal changes (12 cases) and metaphyseal beaks (21 cases). CONCLUSIONS: Phenylketonuria-specific skeletal changes are important X-ray signs of phenylketonuria.