title: Occipital horn syndrome in a woman: skeletal radiological findings.
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.
authors.affiliation: Imaging Division, Clinical Department of Radiological and Histocytopathological Sciences, University of Bologna, Sant'Orsola-Malpighi Hospital, Bologna, Italy.
authors.forename: Alberto
authors.initials: A
authors.lastname: Bazzocchi
authors.forename: Rayka
authors.initials: R
authors.lastname: Femia
authors.forename: Paola
authors.initials: P
authors.lastname: Feraco
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Battista
authors.forename: Romeo
authors.initials: R
authors.lastname: Canini
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Guglielmi
mesh_terms: D001842:Bone and Bones / Q000000981:diagnostic imaging*; D003483:Cutis Laxa / Q000175:diagnosis / Q000000981:diagnostic imaging* / Q000235:genetics; D004535:Ehlers-Danlos Syndrome / Q000175:diagnosis / Q000000981:diagnostic imaging* / Q000235:genetics; D005096:Exostoses / Q000000981:diagnostic imaging*; D005260:Female; D050172:Genes, X-Linked; D006801:Humans; D008875:Middle Aged; D009777:Occipital Bone / Q000000981:diagnostic imaging*; D011859:Radiography