Bertolani M F, Baroncini A, Marotti F, Scalera E
Istituto di Clinica Pediatrica, Università di Modena, Italia.
Pediatr Med Chir. 1993 Nov-Dec;15(6):589-91.
The Authors describe a case of Blackfan-Diamond anemia with ambiguous genitalia and other minor anomalies. They point out the elements of differential diagnosis with other precocious erythroblastopenic conditions and suppose a recessive inheritance of the disease because of family consanguinity in two generations.
作者描述了一例患有生殖器模糊及其他轻微异常的先天性纯红细胞再生障碍性贫血病例。他们指出了与其他早发性红细胞生成障碍性疾病进行鉴别诊断的要点，并因两代家族近亲结婚推测该病为隐性遗传。
