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

J Pediatr Hematol Oncol. 2007 May;29(5):338-40. doi: 10.1097/MPH.0b013e31805d8f45.

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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / genetics
  • Anemia, Diamond-Blackfan / complications*
  • Anemia, Diamond-Blackfan / diagnosis
  • Anemia, Diamond-Blackfan / genetics
  • Cleft Palate / complications*
  • Cleft Palate / diagnosis
  • Cleft Palate / genetics
  • Ear Canal / abnormalities*
  • Female
  • Hearing Loss, Bilateral / complications*
  • Hearing Loss, Bilateral / diagnosis
  • Hearing Loss, Bilateral / genetics
  • Humans
  • Infant
  • Infant, Newborn
  • Mandibulofacial Dysostosis / complications*
  • Mandibulofacial Dysostosis / diagnosis
  • Mandibulofacial Dysostosis / genetics
  • Mutation
  • Phenotype
  • Ribosomal Proteins / genetics
  • Tomography, X-Ray Computed / methods

Substances

  • Ribosomal Proteins
  • ribosomal protein S19