Occipital horn syndrome in a woman: Skeletal radiological findings

Alberto Bazzocchi, Rayka Femia, Paola Feraco, Giuseppe Battista, Romeo Canini, Giuseppe Guglielmi

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)1491-1494
Number of pages4
JournalSkeletal Radiology
Volume40
Issue number11
DOIs
Publication statusPublished - Nov 2011

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging

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