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作者报告1例8岁男孩,正常分娩,双亲非近亲婚配。患有泛发性鱼鳞癣,短而不规则的头发,双侧先天性白内障,身材矮小和气喘病。出生时外貌呈“火棉胶样儿”。家族史无特应性素质鱼鳞癣或侏儒症。查体见有特殊颜貌及缺少软骨的“上褶”(“bunched up”)耳。身长及体重均低于第三百分位。躯干有弥漫性红斑伴糠麸状鳞屑。四肢皮肤呈现大量多边形棕黄色鳞屑,侧面和伸面尤著。手掌和足底附着小的多边形鳞屑。指(趾)甲尤其是手指甲增
The authors report an 8-year-old boy with normal childbirth and a non-kinship marriage. Suffering from ichthyosis, short and irregular hair, bilateral congenital cataracts, short stature, and asthma. Appearance at birth was “fire cotton gum-like children.” Family history no atopic quality ichthyosis or dwarfism. Look for “bunched up” ears with special look and lack of cartilage. Length and weight are lower than the third percentile. Trunk with diffuse erythema with bran-like scales. Extremities showed a large number of polygons brown scales, side and extensor especially. Small polygonal scales attached to palms and soles. Finger nails, especially fingernails increase