"Clinical imaging findings in a girl with Hutchinson-Gilford progeria
syndrome: We report an 8½-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."
