马蹄内翻足是一种常染色体显性遗传病,发病率很低。本室在山区发现一家三代均患此病,实属罕见。现报告如下:先证者,韩××,男性,45岁,未婚。临床症状主要表现在双脚畸形,不能直立,走路困难,常常双膝着地。双脚均为前足内收、内翻,骨胳变形,小腿内侧肌肉萎缩(见先证者外观照片),其它心肝肺脾均属正常,智力发育稍差。采用外周血淋巴细胞培养法对先证者及其父做了染色体检查,各观察了50个中期分 Clubfoot is an autosomal dominant genetic disease, the incidence is very low. This room in the mountains found a three generations are suffering from the disease, it is rare. The report is as follows: Proof, Han × ×, male, 45 years old, unmarried. Clinical symptoms mainly manifested in the deformity of the feet, can not stand upright, walking difficulties, often knees. Feet are adduction, varus, skeletal deformation, medial calf muscle atrophy (see the proband’s appearance photos), other heart and lung spleen are normal, mental development slightly worse. Using peripheral blood lymphocyte culture method for proband and his father did a chromosomal examination, each observed 50 mid-term