The clinical and radiological features of Fanconi's anaemia

Clin Radiol. 2000 May;55(5):340-5. doi: 10.1053/crad.2000.0445.


Fanconi's anaemia is a severe refractory anaemia, associated with congenital malformations in approximately two-thirds of cases. Although these malformations may involve every organ system, suggestive dysmorphic features include growth retardation, radial ray deformities and urinary malformations. These malformations are not specific for Fanconi's anaemia, but should be recognized during pregnancy, or later in childhood, and suggest the possibility of inherited haematopoiesis disorders.

Publication types

  • Review

MeSH terms

  • Abnormalities, Multiple / diagnostic imaging*
  • Child
  • Child, Preschool
  • Fanconi Anemia / diagnostic imaging*
  • Female
  • Humans
  • Kidney / abnormalities
  • Kidney / diagnostic imaging
  • Male
  • Radiography
  • Thumb / abnormalities
  • Thumb / diagnostic imaging