Cleft palate, bilateral external auditory canal atresia, and other midline defects associated with Diamond-Blackfan anemia: case report
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Published on: February 29, 2020
Alicia McFarren1, Somasundaram Jayabose, Mehmet Fevzi Ozkaynak
1Department of Pediatrics, New York Medical College, and Maria Fareri Children's Hospital, Valhalla, New York 10595, USA.
Abstract:
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.
