女,9岁。进行性面黄3年,逐渐加重。近来胃纳差,卧床不起。病初时常有鼻衄,余无特殊病史。父母亲非近亲结婚,患儿有姐妹3人,两个姐姐均有面黄、贫血,六指畸形,并在6、7岁时死亡,妹妹也因面黄、腹泻在1岁内死亡。家族五代中的其他成员未发现类似病史。体检:体重19kg, Female, 9 years old. Progressive face yellow 3 years, gradually increased. Recent poor appetite, bedridden. Early nasal often sick, I have no special history. The parents were married to non-relatives. The children had 3 sisters. Both sisters had facial yellow, anemia and 6-finger deformities. They died at the age of 6 and 7, and their sisters died of noxious yellow and diarrhea within 1 year of age. Other members of the family did not find a similar medical history. Physical examination: weight 19kg,