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.
McFarren
Alicia
A
Department of Pediatrics, New York Medical College, and Maria Fareri Children's Hospital, Valhalla, New York 10595, USA.
Jayabose
Somasundaram
S
Fevzi Ozkaynak
Mehmet
M
Tugal
Oya
O
Sandoval
Claudio
C
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D029503:Anemia, Diamond-Blackfan / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D002972:Cleft Palate / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D004424:Ear Canal / Q000002:abnormalities*; D005260:Female; D006312:Hearing Loss, Bilateral / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008342:Mandibulofacial Dysostosis / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D009154:Mutation; D010641:Phenotype; D012269:Ribosomal Proteins / Q000235:genetics; D014057:Tomography, X-Ray Computed / Q000379:methods
D012269:Ribosomal Proteins; C040343:ribosomal protein S19