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例1:男,33岁。1984年10月因双膝关节疼痛,下肢溃疡来诊.患者出生后十几天发高烧,继之四肢、手足指(趾)逐渐隐蔽性粗大变形,行走活动尚可,无明显不适,13年前双下肢远端出现溃疡,久治不愈。病人足月顺产,智力、第二性征正常。家族三代除胞兄外无类似表现。否认近亲结婚史。体检:头颅五官正常,四肢粗大,尤胫骨近端明显,膝关节轻度内翻,功能尚佳。双下肢远端内侧皮肤呈暗紫色见3×4厘米
Example 1: Male, 33 years old. October 1984 due to knee pain, lower extremity ulcer diagnosis. Patients with fever ten days after birth, followed by limbs, hand and foot (toe) gradually concealed gross deformation, walking activity is OK, no obvious discomfort, 13 years Before the lower extremity ulcers, long treatment. Full-term follow-up of patients with mental, mental, secondary sexual characteristics normal. Three generations in addition to the family outside the brother did not show similar performance. Denied the history of close marriage. Physical examination: the facial features of the skull are normal, the limbs are thick, especially the proximal tibia is obvious, the knee is slightly inverted, and the function is still good. The lower extremity distal medial skin was dark purple see 3 × 4 cm