【摘要】 1980年～1988年共遇到8例HalIermann-Streiff综合征,2例进行了7年后随访。病人包括男性6例,女性2例,年龄在8岁～32岁之间。临床表现为:①鸟面畸形;②先天性白内障或无晶体在全部病例中均具备;③牙齿异常7例;④体儒4例,其中1例(例7,男,32岁,身高1.23m,体重29.5 kg)前囟门未闭;⑤皮肤萎缩7例,萎缩灶发亮菲薄,特别在鼻尖部,3例有1～2块斑秃;⑥毛发稀少8例;⑦双侧小眼球6例。①和②对本征的诊断具有重要意义。更多还原

【Abstract】 8 cases of Hallermann-streiff syndrome were found trom 1980 to 1988. Two of them had been followed up for 7 years. The patients consisted of 6 males and 2 females at 8-32 years of age. The clinical manifestations were as follows : ① dsycephaly with bird face and ; ② congenital cataract or aphakic in all cases; ③ dental anomaly in 7 cases; ④nanism in 4 cases and the fontanel frontalis (maior) of 1 casc (case 7, males 32 years of age, height 1. 23 m, weight 29. 5 kg) was not closed, ⑤ atrophy of skin in 7 cases whosc skin appeared shine and thin, particularly on the nose top, and one or two areas of alopecia appeared in 3 of 6 cases, ⑥ hypotrichosis in 8 cases and ⑦ bilateral microphthalmia in 6 cases. ① and ② were significant for the diagnosis of Hallemann-Streiff syndrome.更多还原