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先证者,男,23岁,体重75kg,身高180cm,体格健壮,智力、视力均正常。先证者出生后就出现毛发局部呈白色,腋毛、阴毛全白、体毛,白化区全白,非白化区黑白相间。前额、下额各有一白斑;胸腹全白;腋下、臂内侧全白;腿部前后均白。身体其余部位皮肤正常。初步测定白化区占皮肤总表面的52%左右。家系调查,从曾祖父、母算起,全家族近40人,除先证者、其父、其祖父为本病患者外,其余均正常。
Proof, male, 23 years old, weight 75kg, height 180cm, physical fitness, intelligence, visual acuity are normal. After the proband was born, the hair appeared white, armpit hair, pubic hair all white, body hair, whitening area all white, non-whitening area black and white. Forehead, the next amount of each have a white spot; chest and abdomen white; armpit, arm white inside; legs are white before and after. The rest of the body skin is normal. The initial determination of albino area accounted for about 52% of the total skin surface. Pedigree investigation, from great-grandfather, mother, the whole family nearly 40 people, except the proband, his father, his grandfather as the patient, the rest are normal.