Cleft palate, bilateral external auditory canal atresia, and other midline defects associated with Diamond-Blackfan anemia: case report.

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.