title: Clinical imaging findings in a girl with Hutchinson-Gilford progeria syndrome.
abstract: We report an 82-year-old girl with premature aging, a karyotype of 46,XX and a de novo c.1824C>T mutation encoding p.G608G in the lamin A gene. The clinical features of accelerated aging and the molecular finding were consistent with the diagnosis of Hutchinson-Gilford progeria syndrome (HGPS). In this presentation, we demonstrate the radiological imaging findings of skeletal, oral and craniofacial phenotypes of abnormalities associated with HGPS. The oral and craniofacial abnormalities caused dental caries, severe malocclusion, and swallowing, feeding and speech problems. Dural calcification, and granulation in the ear drum and external ear canal were additionally observed.
authors.affiliation: Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan. cpc_mmh@yahoo.com
authors.forename: C P
authors.initials: CP
authors.lastname: Chen
authors.forename: S P
authors.initials: SP
authors.lastname: Lin
authors.forename: D S
authors.initials: DS
authors.lastname: Lin
authors.forename: Y P
authors.initials: YP
authors.lastname: Liu
authors.forename: L J
authors.initials: LJ
authors.lastname: Hsu
authors.forename: W
authors.initials: W
authors.lastname: Wang
mesh_terms: D002648:Child; D019465:Craniofacial Abnormalities / Q000000981:diagnostic imaging* / Q000235:genetics; D003731:Dental Caries / Q000000981:diagnostic imaging* / Q000235:genetics; D005260:Female; D005269:Femur / Q000000981:diagnostic imaging*; D006225:Hand / Q000000981:diagnostic imaging*; D006801:Humans; D034904:Lamin Type A / Q000235:genetics; D009154:Mutation; D011371:Progeria / Q000000981:diagnostic imaging* / Q000235:genetics; D011859:Radiography
chemical_list: D034904:Lamin Type A