【摘要】 斑驳病是一种罕见的常染色体显性遗传病。临床典型特征是先天性白发和白斑。先证者女,2岁3个月,额、腹及双下肢白斑和白色额发2年余。其父亲亦有白色额发和白斑,家族成员共3代19人,患病6人,年龄最小2岁,最大72岁。每代均有成员发病,男3例,女3例,符合常染色体显性遗传。更多还原

【Abstract】 Piebaldism is a rare autosomal dominant disorder characterized by congenital poliosis and leukoderma.Proband,female,2 years and 3 months old,with leukasmus on the forehead,abdomen,and both crus and white forelock for more than two years.Her father also has white forelock and leukasmus.The clan has 3 generations with 19 persons altogether.Among them,6 persons suffer from Piebaldism,with the youngest being 2 years old,and oldest being 72-year-old.For each generation,there have been people that suffer from the disease,3 males and 3 females,which is in line with the characteristic of autosomal dominant inheritance.更多还原