title: Radiographic presentation of musculoskeletal involvement in Werner syndrome (adult progeria).
abstract: Werner syndrome (i.e., adult progeria) is a rare autosomal recessive disorder caused by mutations of the WRN gene, which is characterized by the premature appearance of features associated with normal aging and cancer predisposition. Patients with Werner syndrome can present with musculoskeletal complaints, associated with suggestive radiographic features with a potential prognostic or therapeutic impact. This review illustrates the main radiographic features of Werner syndrome, focusing on the musculoskeletal system, such as soft-tissue calcification, muscular atrophy, osteoporosis, foot deformities, osteitis and osteomyelitis, and bone or soft-tissues malignancies. The identification of these features by radiologists can therefore be useful in the clinical screening of Werner syndrome.
authors.affiliation: Service central de radiologie et imagerie médicale, Hôtel Dieu, CHU de Nantes, 1, place Alexis-Ricordeau, 44093 Nantes cedex 1, France. Electronic address: art.dav44@gmail.com.
authors.forename: A
authors.initials: A
authors.lastname: David
authors.affiliation: Unité de génétique clinique, hôpital Mère-Enfant, CHU de Nantes, 7, quai Moncousu, 44000 Nantes, France.
authors.forename: M
authors.initials: M
authors.lastname: Vincent
authors.affiliation: Service central de radiologie et imagerie médicale, Hôtel Dieu, CHU de Nantes, 1, place Alexis-Ricordeau, 44093 Nantes cedex 1, France.
authors.forename: P P
authors.initials: PP
authors.lastname: Arrigoni
authors.affiliation: Clinique dermatologique, Hôtel Dieu, CHU de Nantes, 1, place Alexis-Ricordeau, 44093 Nantes cedex, France.
authors.forename: S
authors.initials: S
authors.lastname: Barbarot
authors.affiliation: Médecine interne, Hôtel Dieu, CHU de Nantes, 1, place Alexis-Ricordeau, 44093 Nantes cedex 1, France.
authors.forename: M A
authors.initials: MA
authors.lastname: Pistorius
authors.affiliation: Unité de génétique clinique, hôpital Mère-Enfant, CHU de Nantes, 7, quai Moncousu, 44000 Nantes, France.
authors.forename: B
authors.initials: B
authors.lastname: Isidor
authors.affiliation: Service central de radiologie et imagerie médicale, Hôtel Dieu, CHU de Nantes, 1, place Alexis-Ricordeau, 44093 Nantes cedex 1, France.
authors.forename: E
authors.initials: E
authors.lastname: Frampas
mesh_terms: D006801:Humans; D009140:Musculoskeletal Diseases / Q000000981:diagnostic imaging* / Q000209:etiology*; D011859:Radiography; D014898:Werner Syndrome / Q000150:complications*
keywords: Adult progeria; Musculoskeletal system; Soft-tissue calcification; Werner syndrome; X-ray