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先证者男性、13岁,在遗传病调查时发现本病。患者生后指趾甲似螺蛳盖状,呈棕色反甲畸形,双中指短于其它指。冬季时,双手皮肤、指甲常因皲裂而疼痛。检检:发育营养中等,心肺阴性,肝于肋下1cm 可及,质软无压痛,其余部位无明显畸形.血、尿、便三大常规、肝功能、血钙、血磷等检查均在正常范围内,外周淋巴细胞培养染色体核型分析未见异常,X 线片示双手第Ⅲ掌骨较短,小头膨大。家系调查:先证者五姐有和先证者完全相同的表现,母亲、二姐仅为棕色反甲畸形,Ⅱ_3、Ⅲ_7染色体核型均为46XX,上述4例均无其它临床症状,
Proof of the male, 13 years old, found in the genetic disease investigation of the disease. Patients after birth toenails like snail cap, brown anti-deformity, the middle finger shorter than the other fingers. In winter, hands and nails are often sore due to chapped skin. Inspection: the development of moderate nutrition, heart and lung-negative, the liver 1cm in the ribs accessible, soft without tenderness, the remaining parts of no significant deformity. Blood, urine, then the three conventional liver function, serum calcium, phosphorus and other tests were Within the normal range, there was no abnormal karyotype analysis of peripheral lymphocyte culture. X-ray showed that the third metacarpal of both hands was short and the head was swollen. Pedigree investigation: The first five witnesses and probands exactly the same performance, the mother, sister only brown anti-deformity, Ⅱ_3, Ⅲ_7 chromosome karyotype are 46XX, the above 4 cases were no other clinical symptoms,