Aase syndrome: novel radiographic features

Am J Med Genet. 1993 Feb 15;45(4):413-5. doi: 10.1002/ajmg.1320450402.

Abstract

We report on a female with hypoplastic anemia and abnormally digitalized thumbs who presented with growth failure and novel osseous radiologic abnormalities. In addition to thumb anomalies, abnormalities of the clavicles, ilia, distal sacrum, and coccyx and described.

Publication types

  • Case Reports

MeSH terms

  • Anemia, Aplastic / congenital*
  • Anemia, Aplastic / diagnostic imaging
  • Anemia, Aplastic / genetics
  • Female
  • Growth Plate / abnormalities
  • Growth Plate / diagnostic imaging
  • Humans
  • Infant, Newborn
  • Radiography
  • Syndrome
  • Thumb / abnormalities*
  • Thumb / diagnostic imaging