McFarren Alicia, Jayabose Somasundaram, Fevzi Ozkaynak Mehmet, Tugal Oya, Sandoval Claudio
Department of Pediatrics, New York Medical College, and Maria Fareri Children's Hospital, Valhalla, New York 10595, USA.
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。
