Occipital horn syndrome in a woman: skeletal radiological findings

Skeletal Radiol. 2011 Nov;40(11):1491-4. doi: 10.1007/s00256-011-1175-6. Epub 2011 May 8.

Abstract

Ehlers-Danlos type IX syndrome, also called occipital horn syndrome (OHS), is a milder and rare form of Menkes disease where the patient reaches adulthood. As an X-linked disease, it typically occurs in male subjects, while female subjects are usually healthy carriers. OHS is mainly characterized by connective tissue disorders and slightly subnormal intelligence or signs of autonomic dysfunction are the only apparent neurological abnormalities, in connection with molecular defects in copper metabolism. Our purpose is to report on radiological skeletal findings that may be incidental or investigated when OHS is suspected and to underline the possible involvement and expression in the female. Moreover, the impact of skeletal findings is also highlighted in the prevention of serious complications of the disease.

Publication types

  • Case Reports

MeSH terms

  • Bone and Bones / diagnostic imaging*
  • Cutis Laxa / diagnosis
  • Cutis Laxa / diagnostic imaging*
  • Cutis Laxa / genetics
  • Ehlers-Danlos Syndrome / diagnosis
  • Ehlers-Danlos Syndrome / diagnostic imaging*
  • Ehlers-Danlos Syndrome / genetics
  • Exostoses / diagnostic imaging*
  • Female
  • Genes, X-Linked
  • Humans
  • Middle Aged
  • Occipital Bone / diagnostic imaging*
  • Radiography

Supplementary concepts

  • Occipital horn syndrome