腭裂、双侧外耳道闭锁及与先天性纯红细胞再生障碍性贫血相关的其他中线缺陷：病例报告
Cleft palate, bilateral external auditory canal atresia, and other midline defects associated with Diamond-Blackfan anemia: case report.
作者信息
McFarren Alicia, Jayabose Somasundaram, Fevzi Ozkaynak Mehmet, Tugal Oya, Sandoval Claudio
机构信息
Department of Pediatrics, New York Medical College, and Maria Fareri Children's Hospital, Valhalla, New York 10595, USA.
出版信息
J Pediatr Hematol Oncol. 2007 May;29(5):338-40. doi: 10.1097/MPH.0b013e31805d8f45.
Diamond-Blackfan anemia (DBA) is associated with congenital anomalies especially of the midline. When present, facial anomalies are reminiscent of Treacher-Collins syndrome, and both DBA and Treacher-Collins syndrome are disorders of ribosomal biogenesis. Herein, we describe a female infant with multiple midline defects associated with DBA and reaffirm the absence of RPS-19 mutations in DBA patients with facial anomalies.
先天性纯红细胞再生障碍性贫血（DBA）与先天性异常有关，尤其是中线部位的异常。出现面部异常时，会使人联想到特雷彻 - 柯林斯综合征，而DBA和特雷彻 - 柯林斯综合征都是核糖体生物合成障碍性疾病。在此，我们描述了一名患有与DBA相关的多种中线缺陷的女婴，并再次证实面部异常的DBA患者不存在RPS - 19突变。
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