Challenge of the Week / Pediatrics / 09.20.19

A baby born with congenital absence of the radii is noted to have frequent episodes of bruising. Which of the following findings also are likely to be seen?
  • Thrombocytopenia which improves or becomes less severe later in life
  • Thrombocytopenia-absent radius syndrome is being described. The anemia is transient.

  • Thrombocytopenia which worsens after the second decade of life
  • This is a feature of late-onset thrombocytopenic syndromes such as Fanconi anemia.

  • A lack of thumbs
  • Absent thumbs may be present; however, with thrombocytopenia-absent radius syndrome being described, it is more likely that a hypoplastic thumb will be present.

  • Fibular deficiencies
  • Fibular deficiency is not associated with thrombocytopenia-absent radius syndrome, which is being described.

%d bloggers like this: