Long-term skeletal findings in Menkes disease

Pediatr Radiol. 2010 Aug;40(8):1426-9. doi: 10.1007/s00247-010-1551-8. Epub 2010 Feb 24.

Abstract

Skeletal findings in infants with Menkes disease, the most characteristic of which are metaphyseal spurs, long-bone fractures and wormian bones, have been widely reported. However, the changes in skeletal features over time are not well known. The long-term findings differ completely from those initially observed and consist of undertubulation and metaphyseal flaring, similar to the findings seen in some types of bone dysplasia. The initial and long-term radiological features in an 8-year-old boy with Menkes disease are illustrated.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Femoral Fractures / complications*
  • Humans
  • Longitudinal Studies
  • Male
  • Menkes Kinky Hair Syndrome / complications*